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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1476603937

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:148811689 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/264690, TOPMED)
G=0.00007 (1/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
EZH2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=0.99993 G=0.00007 0.999858 0.0 0.000142 0
European Sub 9690 C=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=0.9997 G=0.0003 0.99931 0.0 0.00069 0
African Others Sub 114 C=1.000 G=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=0.9996 G=0.0004 0.999282 0.0 0.000718 0
Asian Sub 112 C=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 G=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999996 G=0.000004
Allele Frequency Aggregator Total Global 14050 C=0.99993 G=0.00007
Allele Frequency Aggregator European Sub 9690 C=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 C=0.9997 G=0.0003
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 7 NC_000007.14:g.148811689C>A
GRCh38.p14 chr 7 NC_000007.14:g.148811689C>G
GRCh38.p14 chr 7 NC_000007.14:g.148811689C>T
GRCh37.p13 chr 7 NC_000007.13:g.148508781C>A
GRCh37.p13 chr 7 NC_000007.13:g.148508781C>G
GRCh37.p13 chr 7 NC_000007.13:g.148508781C>T
EZH2 RefSeqGene (LRG_531) NG_032043.1:g.77661G>T
EZH2 RefSeqGene (LRG_531) NG_032043.1:g.77661G>C
EZH2 RefSeqGene (LRG_531) NG_032043.1:g.77661G>A
Gene: EZH2, enhancer of zeste 2 polycomb repressive complex 2 subunit (minus strand)
Molecule type Change Amino acid[Codon] SO Term
EZH2 transcript variant 4 NM_001203248.2:c.1841G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform d NP_001190177.1:p.Gly614Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant 4 NM_001203248.2:c.1841G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform d NP_001190177.1:p.Gly614Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant 4 NM_001203248.2:c.1841G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform d NP_001190177.1:p.Gly614Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant 2 NM_152998.3:c.1751G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform b NP_694543.1:p.Gly584Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant 2 NM_152998.3:c.1751G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform b NP_694543.1:p.Gly584Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant 2 NM_152998.3:c.1751G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform b NP_694543.1:p.Gly584Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant 3 NM_001203247.2:c.1868G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform c NP_001190176.1:p.Gly623Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant 3 NM_001203247.2:c.1868G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform c NP_001190176.1:p.Gly623Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant 3 NM_001203247.2:c.1868G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform c NP_001190176.1:p.Gly623Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant 5 NM_001203249.2:c.1715G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform e NP_001190178.1:p.Gly572Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant 5 NM_001203249.2:c.1715G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform e NP_001190178.1:p.Gly572Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant 5 NM_001203249.2:c.1715G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform e NP_001190178.1:p.Gly572Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant 1 NM_004456.5:c.1883G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform a NP_004447.2:p.Gly628Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant 1 NM_004456.5:c.1883G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform a NP_004447.2:p.Gly628Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant 1 NM_004456.5:c.1883G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform a NP_004447.2:p.Gly628Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X33 XM_011515899.4:c. N/A Genic Downstream Transcript Variant
EZH2 transcript variant X36 XM_011515901.4:c. N/A Genic Downstream Transcript Variant
EZH2 transcript variant X34 XM_047420007.1:c. N/A Genic Downstream Transcript Variant
EZH2 transcript variant X35 XM_047420008.1:c. N/A Genic Downstream Transcript Variant
EZH2 transcript variant X37 XM_047420009.1:c. N/A Genic Downstream Transcript Variant
EZH2 transcript variant X1 XM_017011817.3:c.1907G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X1 XP_016867306.1:p.Gly636Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X1 XM_017011817.3:c.1907G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X1 XP_016867306.1:p.Gly636Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X1 XM_017011817.3:c.1907G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X1 XP_016867306.1:p.Gly636Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X2 XM_047419989.1:c.1907G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X1 XP_047275945.1:p.Gly636Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X2 XM_047419989.1:c.1907G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X1 XP_047275945.1:p.Gly636Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X2 XM_047419989.1:c.1907G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X1 XP_047275945.1:p.Gly636Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X3 XM_011515883.3:c.1907G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X1 XP_011514185.1:p.Gly636Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X3 XM_011515883.3:c.1907G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X1 XP_011514185.1:p.Gly636Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X3 XM_011515883.3:c.1907G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X1 XP_011514185.1:p.Gly636Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X4 XM_005249962.5:c.1892G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X2 XP_005250019.1:p.Gly631Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X4 XM_005249962.5:c.1892G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X2 XP_005250019.1:p.Gly631Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X4 XM_005249962.5:c.1892G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X2 XP_005250019.1:p.Gly631Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X5 XM_047419990.1:c.1892G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X2 XP_047275946.1:p.Gly631Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X5 XM_047419990.1:c.1892G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X2 XP_047275946.1:p.Gly631Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X5 XM_047419990.1:c.1892G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X2 XP_047275946.1:p.Gly631Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X38 XM_047419991.1:c.1883G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X30 XP_047275947.1:p.Gly628Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X38 XM_047419991.1:c.1883G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X30 XP_047275947.1:p.Gly628Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X38 XM_047419991.1:c.1883G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X30 XP_047275947.1:p.Gly628Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X6 XM_011515885.3:c.1880G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X3 XP_011514187.1:p.Gly627Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X6 XM_011515885.3:c.1880G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X3 XP_011514187.1:p.Gly627Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X6 XM_011515885.3:c.1880G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X3 XP_011514187.1:p.Gly627Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X7 XM_047419992.1:c.1868G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X4 XP_047275948.1:p.Gly623Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X7 XM_047419992.1:c.1868G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X4 XP_047275948.1:p.Gly623Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X7 XM_047419992.1:c.1868G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X4 XP_047275948.1:p.Gly623Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X8 XM_005249963.5:c.1865G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X5 XP_005250020.1:p.Gly622Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X8 XM_005249963.5:c.1865G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X5 XP_005250020.1:p.Gly622Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X8 XM_005249963.5:c.1865G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X5 XP_005250020.1:p.Gly622Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X9 XM_047419993.1:c.1865G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X5 XP_047275949.1:p.Gly622Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X9 XM_047419993.1:c.1865G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X5 XP_047275949.1:p.Gly622Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X9 XM_047419993.1:c.1865G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X5 XP_047275949.1:p.Gly622Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X10 XM_047419994.1:c.1865G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X5 XP_047275950.1:p.Gly622Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X10 XM_047419994.1:c.1865G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X5 XP_047275950.1:p.Gly622Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X10 XM_047419994.1:c.1865G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X5 XP_047275950.1:p.Gly622Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X11 XM_047419995.1:c.1859G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X6 XP_047275951.1:p.Gly620Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X11 XM_047419995.1:c.1859G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X6 XP_047275951.1:p.Gly620Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X11 XM_047419995.1:c.1859G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X6 XP_047275951.1:p.Gly620Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X12 XM_011515887.4:c.1856G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X7 XP_011514189.1:p.Gly619Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X12 XM_011515887.4:c.1856G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X7 XP_011514189.1:p.Gly619Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X12 XM_011515887.4:c.1856G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X7 XP_011514189.1:p.Gly619Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X13 XM_047419996.1:c.1844G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X8 XP_047275952.1:p.Gly615Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X13 XM_047419996.1:c.1844G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X8 XP_047275952.1:p.Gly615Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X13 XM_047419996.1:c.1844G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X8 XP_047275952.1:p.Gly615Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X14 XM_047419997.1:c.1841G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X9 XP_047275953.1:p.Gly614Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X14 XM_047419997.1:c.1841G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X9 XP_047275953.1:p.Gly614Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X14 XM_047419997.1:c.1841G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X9 XP_047275953.1:p.Gly614Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X15 XM_011515889.3:c.1817G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X10 XP_011514191.1:p.Gly606Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X15 XM_011515889.3:c.1817G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X10 XP_011514191.1:p.Gly606Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X15 XM_011515889.3:c.1817G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X10 XP_011514191.1:p.Gly606Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X16 XM_011515890.3:c.1790G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X11 XP_011514192.1:p.Gly597Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X16 XM_011515890.3:c.1790G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X11 XP_011514192.1:p.Gly597Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X16 XM_011515890.3:c.1790G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X11 XP_011514192.1:p.Gly597Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X17 XM_011515892.3:c.1781G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X12 XP_011514194.1:p.Gly594Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X17 XM_011515892.3:c.1781G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X12 XP_011514194.1:p.Gly594Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X17 XM_011515892.3:c.1781G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X12 XP_011514194.1:p.Gly594Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X18 XM_011515893.3:c.1775G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X13 XP_011514195.1:p.Gly592Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X18 XM_011515893.3:c.1775G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X13 XP_011514195.1:p.Gly592Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X18 XM_011515893.3:c.1775G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X13 XP_011514195.1:p.Gly592Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X19 XM_047419998.1:c.1775G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X13 XP_047275954.1:p.Gly592Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X19 XM_047419998.1:c.1775G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X13 XP_047275954.1:p.Gly592Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X19 XM_047419998.1:c.1775G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X13 XP_047275954.1:p.Gly592Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X20 XM_011515894.3:c.1766G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X14 XP_011514196.1:p.Gly589Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X20 XM_011515894.3:c.1766G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X14 XP_011514196.1:p.Gly589Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X20 XM_011515894.3:c.1766G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X14 XP_011514196.1:p.Gly589Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X21 XM_017011819.2:c.1766G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X15 XP_016867308.1:p.Gly589Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X21 XM_017011819.2:c.1766G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X15 XP_016867308.1:p.Gly589Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X21 XM_017011819.2:c.1766G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X15 XP_016867308.1:p.Gly589Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X22 XM_011515895.3:c.1763G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X16 XP_011514197.1:p.Gly588Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X22 XM_011515895.3:c.1763G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X16 XP_011514197.1:p.Gly588Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X22 XM_011515895.3:c.1763G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X16 XP_011514197.1:p.Gly588Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X23 XM_047419999.1:c.1757G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X17 XP_047275955.1:p.Gly586Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X23 XM_047419999.1:c.1757G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X17 XP_047275955.1:p.Gly586Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X23 XM_047419999.1:c.1757G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X17 XP_047275955.1:p.Gly586Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X24 XM_047420000.1:c.1748G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X18 XP_047275956.1:p.Gly583Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X24 XM_047420000.1:c.1748G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X18 XP_047275956.1:p.Gly583Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X24 XM_047420000.1:c.1748G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X18 XP_047275956.1:p.Gly583Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X25 XM_047420001.1:c.1742G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X19 XP_047275957.1:p.Gly581Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X25 XM_047420001.1:c.1742G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X19 XP_047275957.1:p.Gly581Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X25 XM_047420001.1:c.1742G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X19 XP_047275957.1:p.Gly581Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X26 XM_017011820.3:c.1739G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X20 XP_016867309.1:p.Gly580Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X26 XM_017011820.3:c.1739G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X20 XP_016867309.1:p.Gly580Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X26 XM_017011820.3:c.1739G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X20 XP_016867309.1:p.Gly580Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X27 XM_005249964.5:c.1739G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X21 XP_005250021.1:p.Gly580Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X27 XM_005249964.5:c.1739G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X21 XP_005250021.1:p.Gly580Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X27 XM_005249964.5:c.1739G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X21 XP_005250021.1:p.Gly580Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X28 XM_047420002.1:c.1724G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X22 XP_047275958.1:p.Gly575Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X28 XM_047420002.1:c.1724G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X22 XP_047275958.1:p.Gly575Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X28 XM_047420002.1:c.1724G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X22 XP_047275958.1:p.Gly575Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X29 XM_011515896.3:c.1649G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X23 XP_011514198.1:p.Gly550Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X29 XM_011515896.3:c.1649G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X23 XP_011514198.1:p.Gly550Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X29 XM_011515896.3:c.1649G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X23 XP_011514198.1:p.Gly550Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X30 XM_047420004.1:c.1625G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X24 XP_047275960.1:p.Gly542Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X30 XM_047420004.1:c.1625G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X24 XP_047275960.1:p.Gly542Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X30 XM_047420004.1:c.1625G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X24 XP_047275960.1:p.Gly542Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X31 XM_047420005.1:c.1556G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X25 XP_047275961.1:p.Gly519Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X31 XM_047420005.1:c.1556G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X25 XP_047275961.1:p.Gly519Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X31 XM_047420005.1:c.1556G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X25 XP_047275961.1:p.Gly519Asp G (Gly) > D (Asp) Missense Variant
EZH2 transcript variant X32 XM_047420006.1:c.1556G>T G [GGC] > V [GTC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X25 XP_047275962.1:p.Gly519Val G (Gly) > V (Val) Missense Variant
EZH2 transcript variant X32 XM_047420006.1:c.1556G>C G [GGC] > A [GCC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X25 XP_047275962.1:p.Gly519Ala G (Gly) > A (Ala) Missense Variant
EZH2 transcript variant X32 XM_047420006.1:c.1556G>A G [GGC] > D [GAC] Coding Sequence Variant
histone-lysine N-methyltransferase EZH2 isoform X25 XP_047275962.1:p.Gly519Asp G (Gly) > D (Asp) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A G T
GRCh38.p14 chr 7 NC_000007.14:g.148811689= NC_000007.14:g.148811689C>A NC_000007.14:g.148811689C>G NC_000007.14:g.148811689C>T
GRCh37.p13 chr 7 NC_000007.13:g.148508781= NC_000007.13:g.148508781C>A NC_000007.13:g.148508781C>G NC_000007.13:g.148508781C>T
EZH2 RefSeqGene (LRG_531) NG_032043.1:g.77661= NG_032043.1:g.77661G>T NG_032043.1:g.77661G>C NG_032043.1:g.77661G>A
EZH2 transcript variant 1 NM_004456.5:c.1883= NM_004456.5:c.1883G>T NM_004456.5:c.1883G>C NM_004456.5:c.1883G>A
EZH2 transcript variant 1 NM_004456.4:c.1883= NM_004456.4:c.1883G>T NM_004456.4:c.1883G>C NM_004456.4:c.1883G>A
EZH2 transcript variant 2 NM_152998.3:c.1751= NM_152998.3:c.1751G>T NM_152998.3:c.1751G>C NM_152998.3:c.1751G>A
EZH2 transcript variant 2 NM_152998.2:c.1751= NM_152998.2:c.1751G>T NM_152998.2:c.1751G>C NM_152998.2:c.1751G>A
EZH2 transcript variant 5 NM_001203249.2:c.1715= NM_001203249.2:c.1715G>T NM_001203249.2:c.1715G>C NM_001203249.2:c.1715G>A
EZH2 transcript variant 5 NM_001203249.1:c.1715= NM_001203249.1:c.1715G>T NM_001203249.1:c.1715G>C NM_001203249.1:c.1715G>A
EZH2 transcript variant 3 NM_001203247.2:c.1868= NM_001203247.2:c.1868G>T NM_001203247.2:c.1868G>C NM_001203247.2:c.1868G>A
EZH2 transcript variant 3 NM_001203247.1:c.1868= NM_001203247.1:c.1868G>T NM_001203247.1:c.1868G>C NM_001203247.1:c.1868G>A
EZH2 transcript variant 4 NM_001203248.2:c.1841= NM_001203248.2:c.1841G>T NM_001203248.2:c.1841G>C NM_001203248.2:c.1841G>A
EZH2 transcript variant 4 NM_001203248.1:c.1841= NM_001203248.1:c.1841G>T NM_001203248.1:c.1841G>C NM_001203248.1:c.1841G>A
EZH2 transcript variant X8 XM_005249963.5:c.1865= XM_005249963.5:c.1865G>T XM_005249963.5:c.1865G>C XM_005249963.5:c.1865G>A
EZH2 transcript variant X6 XM_005249963.4:c.1865= XM_005249963.4:c.1865G>T XM_005249963.4:c.1865G>C XM_005249963.4:c.1865G>A
EZH2 transcript variant X5 XM_005249963.3:c.1865= XM_005249963.3:c.1865G>T XM_005249963.3:c.1865G>C XM_005249963.3:c.1865G>A
EZH2 transcript variant X2 XM_005249963.2:c.1865= XM_005249963.2:c.1865G>T XM_005249963.2:c.1865G>C XM_005249963.2:c.1865G>A
EZH2 transcript variant X2 XM_005249963.1:c.1865= XM_005249963.1:c.1865G>T XM_005249963.1:c.1865G>C XM_005249963.1:c.1865G>A
EZH2 transcript variant X27 XM_005249964.5:c.1739= XM_005249964.5:c.1739G>T XM_005249964.5:c.1739G>C XM_005249964.5:c.1739G>A
EZH2 transcript variant X21 XM_005249964.4:c.1739= XM_005249964.4:c.1739G>T XM_005249964.4:c.1739G>C XM_005249964.4:c.1739G>A
EZH2 transcript variant X16 XM_005249964.3:c.1739= XM_005249964.3:c.1739G>T XM_005249964.3:c.1739G>C XM_005249964.3:c.1739G>A
EZH2 transcript variant X3 XM_005249964.2:c.1739= XM_005249964.2:c.1739G>T XM_005249964.2:c.1739G>C XM_005249964.2:c.1739G>A
EZH2 transcript variant X3 XM_005249964.1:c.1739= XM_005249964.1:c.1739G>T XM_005249964.1:c.1739G>C XM_005249964.1:c.1739G>A
EZH2 transcript variant X4 XM_005249962.5:c.1892= XM_005249962.5:c.1892G>T XM_005249962.5:c.1892G>C XM_005249962.5:c.1892G>A
EZH2 transcript variant X3 XM_005249962.4:c.1892= XM_005249962.4:c.1892G>T XM_005249962.4:c.1892G>C XM_005249962.4:c.1892G>A
EZH2 transcript variant X2 XM_005249962.3:c.1892= XM_005249962.3:c.1892G>T XM_005249962.3:c.1892G>C XM_005249962.3:c.1892G>A
EZH2 transcript variant X1 XM_005249962.2:c.1892= XM_005249962.2:c.1892G>T XM_005249962.2:c.1892G>C XM_005249962.2:c.1892G>A
EZH2 transcript variant X1 XM_005249962.1:c.1892= XM_005249962.1:c.1892G>T XM_005249962.1:c.1892G>C XM_005249962.1:c.1892G>A
EZH2 transcript variant X12 XM_011515887.4:c.1856= XM_011515887.4:c.1856G>T XM_011515887.4:c.1856G>C XM_011515887.4:c.1856G>A
EZH2 transcript variant X8 XM_011515887.3:c.1856= XM_011515887.3:c.1856G>T XM_011515887.3:c.1856G>C XM_011515887.3:c.1856G>A
EZH2 transcript variant X8 XM_011515887.2:c.1856= XM_011515887.2:c.1856G>T XM_011515887.2:c.1856G>C XM_011515887.2:c.1856G>A
EZH2 transcript variant X7 XM_011515887.1:c.1856= XM_011515887.1:c.1856G>T XM_011515887.1:c.1856G>C XM_011515887.1:c.1856G>A
EZH2 transcript variant X1 XM_017011817.3:c.1907= XM_017011817.3:c.1907G>T XM_017011817.3:c.1907G>C XM_017011817.3:c.1907G>A
EZH2 transcript variant X1 XM_017011817.2:c.1907= XM_017011817.2:c.1907G>T XM_017011817.2:c.1907G>C XM_017011817.2:c.1907G>A
EZH2 transcript variant X1 XM_017011817.1:c.1907= XM_017011817.1:c.1907G>T XM_017011817.1:c.1907G>C XM_017011817.1:c.1907G>A
EZH2 transcript variant X6 XM_011515885.3:c.1880= XM_011515885.3:c.1880G>T XM_011515885.3:c.1880G>C XM_011515885.3:c.1880G>A
EZH2 transcript variant X5 XM_011515885.2:c.1880= XM_011515885.2:c.1880G>T XM_011515885.2:c.1880G>C XM_011515885.2:c.1880G>A
EZH2 transcript variant X4 XM_011515885.1:c.1880= XM_011515885.1:c.1880G>T XM_011515885.1:c.1880G>C XM_011515885.1:c.1880G>A
EZH2 transcript variant X16 XM_011515890.3:c.1790= XM_011515890.3:c.1790G>T XM_011515890.3:c.1790G>C XM_011515890.3:c.1790G>A
EZH2 transcript variant X12 XM_011515890.2:c.1790= XM_011515890.2:c.1790G>T XM_011515890.2:c.1790G>C XM_011515890.2:c.1790G>A
EZH2 transcript variant X10 XM_011515890.1:c.1790= XM_011515890.1:c.1790G>T XM_011515890.1:c.1790G>C XM_011515890.1:c.1790G>A
EZH2 transcript variant X17 XM_011515892.3:c.1781= XM_011515892.3:c.1781G>T XM_011515892.3:c.1781G>C XM_011515892.3:c.1781G>A
EZH2 transcript variant X14 XM_011515892.2:c.1781= XM_011515892.2:c.1781G>T XM_011515892.2:c.1781G>C XM_011515892.2:c.1781G>A
EZH2 transcript variant X12 XM_011515892.1:c.1781= XM_011515892.1:c.1781G>T XM_011515892.1:c.1781G>C XM_011515892.1:c.1781G>A
EZH2 transcript variant X18 XM_011515893.3:c.1775= XM_011515893.3:c.1775G>T XM_011515893.3:c.1775G>C XM_011515893.3:c.1775G>A
EZH2 transcript variant X15 XM_011515893.2:c.1775= XM_011515893.2:c.1775G>T XM_011515893.2:c.1775G>C XM_011515893.2:c.1775G>A
EZH2 transcript variant X13 XM_011515893.1:c.1775= XM_011515893.1:c.1775G>T XM_011515893.1:c.1775G>C XM_011515893.1:c.1775G>A
EZH2 transcript variant X22 XM_011515895.3:c.1763= XM_011515895.3:c.1763G>T XM_011515895.3:c.1763G>C XM_011515895.3:c.1763G>A
EZH2 transcript variant X19 XM_011515895.2:c.1763= XM_011515895.2:c.1763G>T XM_011515895.2:c.1763G>C XM_011515895.2:c.1763G>A
EZH2 transcript variant X15 XM_011515895.1:c.1763= XM_011515895.1:c.1763G>T XM_011515895.1:c.1763G>C XM_011515895.1:c.1763G>A
EZH2 transcript variant X29 XM_011515896.3:c.1649= XM_011515896.3:c.1649G>T XM_011515896.3:c.1649G>C XM_011515896.3:c.1649G>A
EZH2 transcript variant X22 XM_011515896.2:c.1649= XM_011515896.2:c.1649G>T XM_011515896.2:c.1649G>C XM_011515896.2:c.1649G>A
EZH2 transcript variant X17 XM_011515896.1:c.1649= XM_011515896.1:c.1649G>T XM_011515896.1:c.1649G>C XM_011515896.1:c.1649G>A
EZH2 transcript variant X3 XM_011515883.3:c.1907= XM_011515883.3:c.1907G>T XM_011515883.3:c.1907G>C XM_011515883.3:c.1907G>A
EZH2 transcript variant X2 XM_011515883.2:c.1907= XM_011515883.2:c.1907G>T XM_011515883.2:c.1907G>C XM_011515883.2:c.1907G>A
EZH2 transcript variant X1 XM_011515883.1:c.1907= XM_011515883.1:c.1907G>T XM_011515883.1:c.1907G>C XM_011515883.1:c.1907G>A
EZH2 transcript variant X15 XM_011515889.3:c.1817= XM_011515889.3:c.1817G>T XM_011515889.3:c.1817G>C XM_011515889.3:c.1817G>A
EZH2 transcript variant X11 XM_011515889.2:c.1817= XM_011515889.2:c.1817G>T XM_011515889.2:c.1817G>C XM_011515889.2:c.1817G>A
EZH2 transcript variant X9 XM_011515889.1:c.1817= XM_011515889.1:c.1817G>T XM_011515889.1:c.1817G>C XM_011515889.1:c.1817G>A
EZH2 transcript variant X20 XM_011515894.3:c.1766= XM_011515894.3:c.1766G>T XM_011515894.3:c.1766G>C XM_011515894.3:c.1766G>A
EZH2 transcript variant X17 XM_011515894.2:c.1766= XM_011515894.2:c.1766G>T XM_011515894.2:c.1766G>C XM_011515894.2:c.1766G>A
EZH2 transcript variant X14 XM_011515894.1:c.1766= XM_011515894.1:c.1766G>T XM_011515894.1:c.1766G>C XM_011515894.1:c.1766G>A
EZH2 transcript variant X26 XM_017011820.3:c.1739= XM_017011820.3:c.1739G>T XM_017011820.3:c.1739G>C XM_017011820.3:c.1739G>A
EZH2 transcript variant X20 XM_017011820.2:c.1739= XM_017011820.2:c.1739G>T XM_017011820.2:c.1739G>C XM_017011820.2:c.1739G>A
EZH2 transcript variant X19 XM_017011820.1:c.1739= XM_017011820.1:c.1739G>T XM_017011820.1:c.1739G>C XM_017011820.1:c.1739G>A
EZH2 transcript variant X21 XM_017011819.2:c.1766= XM_017011819.2:c.1766G>T XM_017011819.2:c.1766G>C XM_017011819.2:c.1766G>A
EZH2 transcript variant X18 XM_017011819.1:c.1766= XM_017011819.1:c.1766G>T XM_017011819.1:c.1766G>C XM_017011819.1:c.1766G>A
EZH2 transcript variant X24 XM_047420000.1:c.1748= XM_047420000.1:c.1748G>T XM_047420000.1:c.1748G>C XM_047420000.1:c.1748G>A
EZH2 transcript variant X2 XM_047419989.1:c.1907= XM_047419989.1:c.1907G>T XM_047419989.1:c.1907G>C XM_047419989.1:c.1907G>A
EZH2 transcript variant X10 XM_047419994.1:c.1865= XM_047419994.1:c.1865G>T XM_047419994.1:c.1865G>C XM_047419994.1:c.1865G>A
EZH2 transcript variant X5 XM_047419990.1:c.1892= XM_047419990.1:c.1892G>T XM_047419990.1:c.1892G>C XM_047419990.1:c.1892G>A
EZH2 transcript variant X9 XM_047419993.1:c.1865= XM_047419993.1:c.1865G>T XM_047419993.1:c.1865G>C XM_047419993.1:c.1865G>A
EZH2 transcript variant X11 XM_047419995.1:c.1859= XM_047419995.1:c.1859G>T XM_047419995.1:c.1859G>C XM_047419995.1:c.1859G>A
EZH2 transcript variant X38 XM_047419991.1:c.1883= XM_047419991.1:c.1883G>T XM_047419991.1:c.1883G>C XM_047419991.1:c.1883G>A
EZH2 transcript variant X13 XM_047419996.1:c.1844= XM_047419996.1:c.1844G>T XM_047419996.1:c.1844G>C XM_047419996.1:c.1844G>A
EZH2 transcript variant X7 XM_047419992.1:c.1868= XM_047419992.1:c.1868G>T XM_047419992.1:c.1868G>C XM_047419992.1:c.1868G>A
EZH2 transcript variant X14 XM_047419997.1:c.1841= XM_047419997.1:c.1841G>T XM_047419997.1:c.1841G>C XM_047419997.1:c.1841G>A
EZH2 transcript variant X31 XM_047420005.1:c.1556= XM_047420005.1:c.1556G>T XM_047420005.1:c.1556G>C XM_047420005.1:c.1556G>A
EZH2 transcript variant X19 XM_047419998.1:c.1775= XM_047419998.1:c.1775G>T XM_047419998.1:c.1775G>C XM_047419998.1:c.1775G>A
EZH2 transcript variant X23 XM_047419999.1:c.1757= XM_047419999.1:c.1757G>T XM_047419999.1:c.1757G>C XM_047419999.1:c.1757G>A
EZH2 transcript variant X25 XM_047420001.1:c.1742= XM_047420001.1:c.1742G>T XM_047420001.1:c.1742G>C XM_047420001.1:c.1742G>A
EZH2 transcript variant X28 XM_047420002.1:c.1724= XM_047420002.1:c.1724G>T XM_047420002.1:c.1724G>C XM_047420002.1:c.1724G>A
EZH2 transcript variant X32 XM_047420006.1:c.1556= XM_047420006.1:c.1556G>T XM_047420006.1:c.1556G>C XM_047420006.1:c.1556G>A
EZH2 transcript variant X30 XM_047420004.1:c.1625= XM_047420004.1:c.1625G>T XM_047420004.1:c.1625G>C XM_047420004.1:c.1625G>A
histone-lysine N-methyltransferase EZH2 isoform a NP_004447.2:p.Gly628= NP_004447.2:p.Gly628Val NP_004447.2:p.Gly628Ala NP_004447.2:p.Gly628Asp
histone-lysine N-methyltransferase EZH2 isoform b NP_694543.1:p.Gly584= NP_694543.1:p.Gly584Val NP_694543.1:p.Gly584Ala NP_694543.1:p.Gly584Asp
histone-lysine N-methyltransferase EZH2 isoform e NP_001190178.1:p.Gly572= NP_001190178.1:p.Gly572Val NP_001190178.1:p.Gly572Ala NP_001190178.1:p.Gly572Asp
histone-lysine N-methyltransferase EZH2 isoform c NP_001190176.1:p.Gly623= NP_001190176.1:p.Gly623Val NP_001190176.1:p.Gly623Ala NP_001190176.1:p.Gly623Asp
histone-lysine N-methyltransferase EZH2 isoform d NP_001190177.1:p.Gly614= NP_001190177.1:p.Gly614Val NP_001190177.1:p.Gly614Ala NP_001190177.1:p.Gly614Asp
histone-lysine N-methyltransferase EZH2 isoform X5 XP_005250020.1:p.Gly622= XP_005250020.1:p.Gly622Val XP_005250020.1:p.Gly622Ala XP_005250020.1:p.Gly622Asp
histone-lysine N-methyltransferase EZH2 isoform X21 XP_005250021.1:p.Gly580= XP_005250021.1:p.Gly580Val XP_005250021.1:p.Gly580Ala XP_005250021.1:p.Gly580Asp
histone-lysine N-methyltransferase EZH2 isoform X2 XP_005250019.1:p.Gly631= XP_005250019.1:p.Gly631Val XP_005250019.1:p.Gly631Ala XP_005250019.1:p.Gly631Asp
histone-lysine N-methyltransferase EZH2 isoform X7 XP_011514189.1:p.Gly619= XP_011514189.1:p.Gly619Val XP_011514189.1:p.Gly619Ala XP_011514189.1:p.Gly619Asp
histone-lysine N-methyltransferase EZH2 isoform X1 XP_016867306.1:p.Gly636= XP_016867306.1:p.Gly636Val XP_016867306.1:p.Gly636Ala XP_016867306.1:p.Gly636Asp
histone-lysine N-methyltransferase EZH2 isoform X3 XP_011514187.1:p.Gly627= XP_011514187.1:p.Gly627Val XP_011514187.1:p.Gly627Ala XP_011514187.1:p.Gly627Asp
histone-lysine N-methyltransferase EZH2 isoform X11 XP_011514192.1:p.Gly597= XP_011514192.1:p.Gly597Val XP_011514192.1:p.Gly597Ala XP_011514192.1:p.Gly597Asp
histone-lysine N-methyltransferase EZH2 isoform X12 XP_011514194.1:p.Gly594= XP_011514194.1:p.Gly594Val XP_011514194.1:p.Gly594Ala XP_011514194.1:p.Gly594Asp
histone-lysine N-methyltransferase EZH2 isoform X13 XP_011514195.1:p.Gly592= XP_011514195.1:p.Gly592Val XP_011514195.1:p.Gly592Ala XP_011514195.1:p.Gly592Asp
histone-lysine N-methyltransferase EZH2 isoform X16 XP_011514197.1:p.Gly588= XP_011514197.1:p.Gly588Val XP_011514197.1:p.Gly588Ala XP_011514197.1:p.Gly588Asp
histone-lysine N-methyltransferase EZH2 isoform X23 XP_011514198.1:p.Gly550= XP_011514198.1:p.Gly550Val XP_011514198.1:p.Gly550Ala XP_011514198.1:p.Gly550Asp
histone-lysine N-methyltransferase EZH2 isoform X1 XP_011514185.1:p.Gly636= XP_011514185.1:p.Gly636Val XP_011514185.1:p.Gly636Ala XP_011514185.1:p.Gly636Asp
histone-lysine N-methyltransferase EZH2 isoform X10 XP_011514191.1:p.Gly606= XP_011514191.1:p.Gly606Val XP_011514191.1:p.Gly606Ala XP_011514191.1:p.Gly606Asp
histone-lysine N-methyltransferase EZH2 isoform X14 XP_011514196.1:p.Gly589= XP_011514196.1:p.Gly589Val XP_011514196.1:p.Gly589Ala XP_011514196.1:p.Gly589Asp
histone-lysine N-methyltransferase EZH2 isoform X20 XP_016867309.1:p.Gly580= XP_016867309.1:p.Gly580Val XP_016867309.1:p.Gly580Ala XP_016867309.1:p.Gly580Asp
histone-lysine N-methyltransferase EZH2 isoform X15 XP_016867308.1:p.Gly589= XP_016867308.1:p.Gly589Val XP_016867308.1:p.Gly589Ala XP_016867308.1:p.Gly589Asp
histone-lysine N-methyltransferase EZH2 isoform X18 XP_047275956.1:p.Gly583= XP_047275956.1:p.Gly583Val XP_047275956.1:p.Gly583Ala XP_047275956.1:p.Gly583Asp
histone-lysine N-methyltransferase EZH2 isoform X1 XP_047275945.1:p.Gly636= XP_047275945.1:p.Gly636Val XP_047275945.1:p.Gly636Ala XP_047275945.1:p.Gly636Asp
histone-lysine N-methyltransferase EZH2 isoform X5 XP_047275950.1:p.Gly622= XP_047275950.1:p.Gly622Val XP_047275950.1:p.Gly622Ala XP_047275950.1:p.Gly622Asp
histone-lysine N-methyltransferase EZH2 isoform X2 XP_047275946.1:p.Gly631= XP_047275946.1:p.Gly631Val XP_047275946.1:p.Gly631Ala XP_047275946.1:p.Gly631Asp
histone-lysine N-methyltransferase EZH2 isoform X5 XP_047275949.1:p.Gly622= XP_047275949.1:p.Gly622Val XP_047275949.1:p.Gly622Ala XP_047275949.1:p.Gly622Asp
histone-lysine N-methyltransferase EZH2 isoform X6 XP_047275951.1:p.Gly620= XP_047275951.1:p.Gly620Val XP_047275951.1:p.Gly620Ala XP_047275951.1:p.Gly620Asp
histone-lysine N-methyltransferase EZH2 isoform X30 XP_047275947.1:p.Gly628= XP_047275947.1:p.Gly628Val XP_047275947.1:p.Gly628Ala XP_047275947.1:p.Gly628Asp
histone-lysine N-methyltransferase EZH2 isoform X8 XP_047275952.1:p.Gly615= XP_047275952.1:p.Gly615Val XP_047275952.1:p.Gly615Ala XP_047275952.1:p.Gly615Asp
histone-lysine N-methyltransferase EZH2 isoform X4 XP_047275948.1:p.Gly623= XP_047275948.1:p.Gly623Val XP_047275948.1:p.Gly623Ala XP_047275948.1:p.Gly623Asp
histone-lysine N-methyltransferase EZH2 isoform X9 XP_047275953.1:p.Gly614= XP_047275953.1:p.Gly614Val XP_047275953.1:p.Gly614Ala XP_047275953.1:p.Gly614Asp
histone-lysine N-methyltransferase EZH2 isoform X25 XP_047275961.1:p.Gly519= XP_047275961.1:p.Gly519Val XP_047275961.1:p.Gly519Ala XP_047275961.1:p.Gly519Asp
histone-lysine N-methyltransferase EZH2 isoform X13 XP_047275954.1:p.Gly592= XP_047275954.1:p.Gly592Val XP_047275954.1:p.Gly592Ala XP_047275954.1:p.Gly592Asp
histone-lysine N-methyltransferase EZH2 isoform X17 XP_047275955.1:p.Gly586= XP_047275955.1:p.Gly586Val XP_047275955.1:p.Gly586Ala XP_047275955.1:p.Gly586Asp
histone-lysine N-methyltransferase EZH2 isoform X19 XP_047275957.1:p.Gly581= XP_047275957.1:p.Gly581Val XP_047275957.1:p.Gly581Ala XP_047275957.1:p.Gly581Asp
histone-lysine N-methyltransferase EZH2 isoform X22 XP_047275958.1:p.Gly575= XP_047275958.1:p.Gly575Val XP_047275958.1:p.Gly575Ala XP_047275958.1:p.Gly575Asp
histone-lysine N-methyltransferase EZH2 isoform X25 XP_047275962.1:p.Gly519= XP_047275962.1:p.Gly519Val XP_047275962.1:p.Gly519Ala XP_047275962.1:p.Gly519Asp
histone-lysine N-methyltransferase EZH2 isoform X24 XP_047275960.1:p.Gly542= XP_047275960.1:p.Gly542Val XP_047275960.1:p.Gly542Ala XP_047275960.1:p.Gly542Asp
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4768452924 Apr 26, 2021 (155)
2 EVA ss5935907057 Oct 15, 2022 (156)
3 TopMed NC_000007.14 - 148811689 Apr 26, 2021 (155)
4 ALFA NC_000007.14 - 148811689 Apr 26, 2021 (155)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5935907057 NC_000007.13:148508780:C:A NC_000007.14:148811688:C:A
ss5935907057 NC_000007.13:148508780:C:G NC_000007.14:148811688:C:G
605830483, 12090375739, ss4768452924 NC_000007.14:148811688:C:G NC_000007.14:148811688:C:G (self)
ss5935907057 NC_000007.13:148508780:C:T NC_000007.14:148811688:C:T
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1476603937

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d