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dbSNP Short Genetic Variations

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.

rs1404778989

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:50768860 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000007 (1/139288, GnomAD)
A=0.00000 (0/14050, ALFA)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RABL2B : Missense Variant
RPL23AP82 : Intron 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=1.00000 A=0.00000, T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 A=0.000, T=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
gnomAD - Genomes Global Study-wide 139288 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75606 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 41612 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13506 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3316 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3116 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2132 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14050 C=1.00000 A=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, T=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 22 NC_000022.11:g.50768860C>A
GRCh38.p14 chr 22 NC_000022.11:g.50768860C>T
GRCh37.p13 chr 22 NC_000022.10:g.51207288C>A
GRCh37.p13 chr 22 NC_000022.10:g.51207288C>T
GRCh37.p13 chr 22 fix patch HG497_PATCH NW_004070876.1:g.3935C>A
GRCh37.p13 chr 22 fix patch HG497_PATCH NW_004070876.1:g.3935C>T
Gene: RABL2B, RAB, member of RAS oncogene family like 2B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RABL2B transcript variant 10 NM_001350005.2:c.603G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 2 NP_001336934.1:p.Glu201Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 10 NM_001350005.2:c.603G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 2 NP_001336934.1:p.Glu201= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 7 NM_001130923.3:c.633G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 3 NP_001124395.1:p.Glu211Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 7 NM_001130923.3:c.633G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 3 NP_001124395.1:p.Glu211= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 2 NM_007081.4:c.603G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 2 NP_009012.1:p.Glu201Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 2 NM_007081.4:c.603G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 2 NP_009012.1:p.Glu201= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 1 NM_001003789.3:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001003789.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 1 NM_001003789.3:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001003789.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 19 NM_001350014.2:c.633G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 3 NP_001336943.1:p.Glu211Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 19 NM_001350014.2:c.633G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 3 NP_001336943.1:p.Glu211= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 16 NM_001350011.2:c.636G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 4 NP_001336940.1:p.Glu212Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 16 NM_001350011.2:c.636G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 4 NP_001336940.1:p.Glu212= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 14 NM_001350009.2:c.636G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 4 NP_001336938.1:p.Glu212Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 14 NM_001350009.2:c.636G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 4 NP_001336938.1:p.Glu212= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 3 NM_001130919.3:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001124391.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 3 NM_001130919.3:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001124391.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 9 NM_001350004.2:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001336933.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 9 NM_001350004.2:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001336933.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 20 NM_001350015.2:c.633G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 3 NP_001336944.1:p.Glu211Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 20 NM_001350015.2:c.633G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 3 NP_001336944.1:p.Glu211= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 5 NM_001130921.3:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001124393.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 5 NM_001130921.3:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001124393.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 6 NM_001130922.3:c.603G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 2 NP_001124394.1:p.Glu201Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 6 NM_001130922.3:c.603G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 2 NP_001124394.1:p.Glu201= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 17 NM_001350012.2:c.636G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 4 NP_001336941.1:p.Glu212Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 17 NM_001350012.2:c.636G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 4 NP_001336941.1:p.Glu212= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 4 NM_001130920.3:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001124392.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 4 NM_001130920.3:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001124392.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 22 NM_001350017.2:c.624G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 5 NP_001336946.1:p.Glu208Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 22 NM_001350017.2:c.624G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 5 NP_001336946.1:p.Glu208= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 18 NM_001350013.2:c.633G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 3 NP_001336942.1:p.Glu211Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 18 NM_001350013.2:c.633G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 3 NP_001336942.1:p.Glu211= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 11 NM_001350006.2:c.603G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 2 NP_001336935.1:p.Glu201Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 11 NM_001350006.2:c.603G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 2 NP_001336935.1:p.Glu201= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 8 NM_001350003.2:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001336932.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 8 NM_001350003.2:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001336932.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 21 NM_001350016.2:c.624G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 5 NP_001336945.1:p.Glu208Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 21 NM_001350016.2:c.624G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 5 NP_001336945.1:p.Glu208= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 13 NM_001350008.2:c.636G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 4 NP_001336937.1:p.Glu212Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 13 NM_001350008.2:c.636G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 4 NP_001336937.1:p.Glu212= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 15 NM_001350010.2:c.636G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 4 NP_001336939.1:p.Glu212Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 15 NM_001350010.2:c.636G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 4 NP_001336939.1:p.Glu212= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 12 NM_001350007.2:c.603G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 2 NP_001336936.1:p.Glu201Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 12 NM_001350007.2:c.603G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 2 NP_001336936.1:p.Glu201= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 23 NM_001394054.1:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001380983.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 23 NM_001394054.1:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001380983.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant 24 NM_001394055.1:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001380984.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant 24 NM_001394055.1:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform 1 NP_001380984.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X24 XM_047441102.1:c. N/A Genic Downstream Transcript Variant
RABL2B transcript variant X25 XM_047441103.1:c. N/A Genic Downstream Transcript Variant
RABL2B transcript variant X1 XM_047441085.1:c.636G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_047297041.1:p.Glu212Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X1 XM_047441085.1:c.636G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_047297041.1:p.Glu212= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X2 XM_017028544.2:c.636G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_016884033.1:p.Glu212Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X2 XM_017028544.2:c.636G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_016884033.1:p.Glu212= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X3 XM_017028543.2:c.636G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_016884032.1:p.Glu212Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X3 XM_017028543.2:c.636G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_016884032.1:p.Glu212= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X4 XM_047441086.1:c.636G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_047297042.1:p.Glu212Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X4 XM_047441086.1:c.636G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_047297042.1:p.Glu212= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X5 XM_047441087.1:c.636G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_047297043.1:p.Glu212Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X5 XM_047441087.1:c.636G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_047297043.1:p.Glu212= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X6 XM_017028546.2:c.636G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_016884035.1:p.Glu212Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X6 XM_017028546.2:c.636G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X1 XP_016884035.1:p.Glu212= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X7 XM_047441088.1:c.633G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X2 XP_047297044.1:p.Glu211Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X7 XM_047441088.1:c.633G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X2 XP_047297044.1:p.Glu211= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X8 XM_047441089.1:c.633G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X2 XP_047297045.1:p.Glu211Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X8 XM_047441089.1:c.633G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X2 XP_047297045.1:p.Glu211= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X9 XM_017028547.2:c.633G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X2 XP_016884036.1:p.Glu211Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X9 XM_017028547.2:c.633G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X2 XP_016884036.1:p.Glu211= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X10 XM_047441090.1:c.624G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X3 XP_047297046.1:p.Glu208Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X10 XM_047441090.1:c.624G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X3 XP_047297046.1:p.Glu208= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X11 XM_047441091.1:c.624G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X3 XP_047297047.1:p.Glu208Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X11 XM_047441091.1:c.624G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X3 XP_047297047.1:p.Glu208= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X12 XM_047441092.1:c.624G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X3 XP_047297048.1:p.Glu208Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X12 XM_047441092.1:c.624G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X3 XP_047297048.1:p.Glu208= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X13 XM_047441093.1:c.624G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X3 XP_047297049.1:p.Glu208Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X13 XM_047441093.1:c.624G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X3 XP_047297049.1:p.Glu208= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X14 XM_047441094.1:c.621G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X4 XP_047297050.1:p.Glu207Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X14 XM_047441094.1:c.621G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X4 XP_047297050.1:p.Glu207= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X26 XM_017028551.2:c.621G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X4 XP_016884040.1:p.Glu207Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X26 XM_017028551.2:c.621G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X4 XP_016884040.1:p.Glu207= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X15 XM_047441095.1:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X5 XP_047297051.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X15 XM_047441095.1:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X5 XP_047297051.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X16 XM_017028552.2:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X5 XP_016884041.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X16 XM_017028552.2:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X5 XP_016884041.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X17 XM_047441096.1:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X5 XP_047297052.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X17 XM_047441096.1:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X5 XP_047297052.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X18 XM_047441097.1:c.606G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X5 XP_047297053.1:p.Glu202Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X18 XM_047441097.1:c.606G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X5 XP_047297053.1:p.Glu202= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X19 XM_047441098.1:c.603G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X6 XP_047297054.1:p.Glu201Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X19 XM_047441098.1:c.603G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X6 XP_047297054.1:p.Glu201= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X20 XM_047441099.1:c.603G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X6 XP_047297055.1:p.Glu201Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X20 XM_047441099.1:c.603G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X6 XP_047297055.1:p.Glu201= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X21 XM_017028556.2:c.603G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X6 XP_016884045.1:p.Glu201Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X21 XM_017028556.2:c.603G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X6 XP_016884045.1:p.Glu201= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X22 XM_047441100.1:c.603G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X6 XP_047297056.1:p.Glu201Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X22 XM_047441100.1:c.603G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X6 XP_047297056.1:p.Glu201= E (Glu) > E (Glu) Synonymous Variant
RABL2B transcript variant X23 XM_047441101.1:c.603G>T E [GAG] > D [GAT] Coding Sequence Variant
rab-like protein 2B isoform X6 XP_047297057.1:p.Glu201Asp E (Glu) > D (Asp) Missense Variant
RABL2B transcript variant X23 XM_047441101.1:c.603G>A E [GAG] > E [GAA] Coding Sequence Variant
rab-like protein 2B isoform X6 XP_047297057.1:p.Glu201= E (Glu) > E (Glu) Synonymous Variant
Gene: RPL23AP82, ribosomal protein L23a pseudogene 82 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RPL23AP82 transcript variant 1 NR_026981.1:n. N/A Intron Variant
RPL23AP82 transcript variant 2 NR_026982.1:n. N/A Genic Upstream Transcript 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 T
GRCh38.p14 chr 22 NC_000022.11:g.50768860= NC_000022.11:g.50768860C>A NC_000022.11:g.50768860C>T
GRCh37.p13 chr 22 NC_000022.10:g.51207288= NC_000022.10:g.51207288C>A NC_000022.10:g.51207288C>T
GRCh37.p13 chr 22 fix patch HG497_PATCH NW_004070876.1:g.3935= NW_004070876.1:g.3935C>A NW_004070876.1:g.3935C>T
RABL2B transcript variant 2 NM_007081.4:c.603= NM_007081.4:c.603G>T NM_007081.4:c.603G>A
RABL2B transcript variant 2 NM_007081.3:c.603= NM_007081.3:c.603G>T NM_007081.3:c.603G>A
RABL2B transcript variant 2 NM_007081.2:c.603= NM_007081.2:c.603G>T NM_007081.2:c.603G>A
RABL2B transcript variant 5 NM_001130921.3:c.606= NM_001130921.3:c.606G>T NM_001130921.3:c.606G>A
RABL2B transcript variant 5 NM_001130921.2:c.606= NM_001130921.2:c.606G>T NM_001130921.2:c.606G>A
RABL2B transcript variant 5 NM_001130921.1:c.606= NM_001130921.1:c.606G>T NM_001130921.1:c.606G>A
RABL2B transcript variant 7 NM_001130923.3:c.633= NM_001130923.3:c.633G>T NM_001130923.3:c.633G>A
RABL2B transcript variant 7 NM_001130923.2:c.633= NM_001130923.2:c.633G>T NM_001130923.2:c.633G>A
RABL2B transcript variant 7 NM_001130923.1:c.633= NM_001130923.1:c.633G>T NM_001130923.1:c.633G>A
RABL2B transcript variant 4 NM_001130920.3:c.606= NM_001130920.3:c.606G>T NM_001130920.3:c.606G>A
RABL2B transcript variant 4 NM_001130920.2:c.606= NM_001130920.2:c.606G>T NM_001130920.2:c.606G>A
RABL2B transcript variant 4 NM_001130920.1:c.606= NM_001130920.1:c.606G>T NM_001130920.1:c.606G>A
RABL2B transcript variant 1 NM_001003789.3:c.606= NM_001003789.3:c.606G>T NM_001003789.3:c.606G>A
RABL2B transcript variant 1 NM_001003789.2:c.606= NM_001003789.2:c.606G>T NM_001003789.2:c.606G>A
RABL2B transcript variant 1 NM_001003789.1:c.606= NM_001003789.1:c.606G>T NM_001003789.1:c.606G>A
RABL2B transcript variant 6 NM_001130922.3:c.603= NM_001130922.3:c.603G>T NM_001130922.3:c.603G>A
RABL2B transcript variant 6 NM_001130922.2:c.603= NM_001130922.2:c.603G>T NM_001130922.2:c.603G>A
RABL2B transcript variant 6 NM_001130922.1:c.603= NM_001130922.1:c.603G>T NM_001130922.1:c.603G>A
RABL2B transcript variant 3 NM_001130919.3:c.606= NM_001130919.3:c.606G>T NM_001130919.3:c.606G>A
RABL2B transcript variant 3 NM_001130919.2:c.606= NM_001130919.2:c.606G>T NM_001130919.2:c.606G>A
RABL2B transcript variant 3 NM_001130919.1:c.606= NM_001130919.1:c.606G>T NM_001130919.1:c.606G>A
RABL2B transcript variant X3 XM_017028543.2:c.636= XM_017028543.2:c.636G>T XM_017028543.2:c.636G>A
RABL2B transcript variant X1 XM_017028543.1:c.636= XM_017028543.1:c.636G>T XM_017028543.1:c.636G>A
RABL2B transcript variant X9 XM_017028547.2:c.633= XM_017028547.2:c.633G>T XM_017028547.2:c.633G>A
RABL2B transcript variant X4 XM_017028547.1:c.633= XM_017028547.1:c.633G>T XM_017028547.1:c.633G>A
RABL2B transcript variant X16 XM_017028552.2:c.606= XM_017028552.2:c.606G>T XM_017028552.2:c.606G>A
RABL2B transcript variant X6 XM_017028552.1:c.606= XM_017028552.1:c.606G>T XM_017028552.1:c.606G>A
RABL2B transcript variant X21 XM_017028556.2:c.603= XM_017028556.2:c.603G>T XM_017028556.2:c.603G>A
RABL2B transcript variant X9 XM_017028556.1:c.603= XM_017028556.1:c.603G>T XM_017028556.1:c.603G>A
RABL2B transcript variant X2 XM_017028544.2:c.636= XM_017028544.2:c.636G>T XM_017028544.2:c.636G>A
RABL2B transcript variant X2 XM_017028544.1:c.636= XM_017028544.1:c.636G>T XM_017028544.1:c.636G>A
RABL2B transcript variant 9 NM_001350004.2:c.606= NM_001350004.2:c.606G>T NM_001350004.2:c.606G>A
RABL2B transcript variant 9 NM_001350004.1:c.606= NM_001350004.1:c.606G>T NM_001350004.1:c.606G>A
RABL2B transcript variant 14 NM_001350009.2:c.636= NM_001350009.2:c.636G>T NM_001350009.2:c.636G>A
RABL2B transcript variant 14 NM_001350009.1:c.636= NM_001350009.1:c.636G>T NM_001350009.1:c.636G>A
RABL2B transcript variant 19 NM_001350014.2:c.633= NM_001350014.2:c.633G>T NM_001350014.2:c.633G>A
RABL2B transcript variant 19 NM_001350014.1:c.633= NM_001350014.1:c.633G>T NM_001350014.1:c.633G>A
RABL2B transcript variant X6 XM_017028546.2:c.636= XM_017028546.2:c.636G>T XM_017028546.2:c.636G>A
RABL2B transcript variant X3 XM_017028546.1:c.636= XM_017028546.1:c.636G>T XM_017028546.1:c.636G>A
RABL2B transcript variant 17 NM_001350012.2:c.636= NM_001350012.2:c.636G>T NM_001350012.2:c.636G>A
RABL2B transcript variant 17 NM_001350012.1:c.636= NM_001350012.1:c.636G>T NM_001350012.1:c.636G>A
RABL2B transcript variant 18 NM_001350013.2:c.633= NM_001350013.2:c.633G>T NM_001350013.2:c.633G>A
RABL2B transcript variant 18 NM_001350013.1:c.633= NM_001350013.1:c.633G>T NM_001350013.1:c.633G>A
RABL2B transcript variant 22 NM_001350017.2:c.624= NM_001350017.2:c.624G>T NM_001350017.2:c.624G>A
RABL2B transcript variant 22 NM_001350017.1:c.624= NM_001350017.1:c.624G>T NM_001350017.1:c.624G>A
RABL2B transcript variant 12 NM_001350007.2:c.603= NM_001350007.2:c.603G>T NM_001350007.2:c.603G>A
RABL2B transcript variant 12 NM_001350007.1:c.603= NM_001350007.1:c.603G>T NM_001350007.1:c.603G>A
RABL2B transcript variant 8 NM_001350003.2:c.606= NM_001350003.2:c.606G>T NM_001350003.2:c.606G>A
RABL2B transcript variant 8 NM_001350003.1:c.606= NM_001350003.1:c.606G>T NM_001350003.1:c.606G>A
RABL2B transcript variant 10 NM_001350005.2:c.603= NM_001350005.2:c.603G>T NM_001350005.2:c.603G>A
RABL2B transcript variant 10 NM_001350005.1:c.603= NM_001350005.1:c.603G>T NM_001350005.1:c.603G>A
RABL2B transcript variant 13 NM_001350008.2:c.636= NM_001350008.2:c.636G>T NM_001350008.2:c.636G>A
RABL2B transcript variant 13 NM_001350008.1:c.636= NM_001350008.1:c.636G>T NM_001350008.1:c.636G>A
RABL2B transcript variant 21 NM_001350016.2:c.624= NM_001350016.2:c.624G>T NM_001350016.2:c.624G>A
RABL2B transcript variant 21 NM_001350016.1:c.624= NM_001350016.1:c.624G>T NM_001350016.1:c.624G>A
RABL2B transcript variant 11 NM_001350006.2:c.603= NM_001350006.2:c.603G>T NM_001350006.2:c.603G>A
RABL2B transcript variant 11 NM_001350006.1:c.603= NM_001350006.1:c.603G>T NM_001350006.1:c.603G>A
RABL2B transcript variant X26 XM_017028551.2:c.621= XM_017028551.2:c.621G>T XM_017028551.2:c.621G>A
RABL2B transcript variant X5 XM_017028551.1:c.621= XM_017028551.1:c.621G>T XM_017028551.1:c.621G>A
RABL2B transcript variant 16 NM_001350011.2:c.636= NM_001350011.2:c.636G>T NM_001350011.2:c.636G>A
RABL2B transcript variant 16 NM_001350011.1:c.636= NM_001350011.1:c.636G>T NM_001350011.1:c.636G>A
RABL2B transcript variant 15 NM_001350010.2:c.636= NM_001350010.2:c.636G>T NM_001350010.2:c.636G>A
RABL2B transcript variant 15 NM_001350010.1:c.636= NM_001350010.1:c.636G>T NM_001350010.1:c.636G>A
RABL2B transcript variant 20 NM_001350015.2:c.633= NM_001350015.2:c.633G>T NM_001350015.2:c.633G>A
RABL2B transcript variant 20 NM_001350015.1:c.633= NM_001350015.1:c.633G>T NM_001350015.1:c.633G>A
RABL2B transcript variant X1 XM_047441085.1:c.636= XM_047441085.1:c.636G>T XM_047441085.1:c.636G>A
RABL2B transcript variant X7 XM_047441088.1:c.633= XM_047441088.1:c.633G>T XM_047441088.1:c.633G>A
RABL2B transcript variant X10 XM_047441090.1:c.624= XM_047441090.1:c.624G>T XM_047441090.1:c.624G>A
RABL2B transcript variant X15 XM_047441095.1:c.606= XM_047441095.1:c.606G>T XM_047441095.1:c.606G>A
RABL2B transcript variant X19 XM_047441098.1:c.603= XM_047441098.1:c.603G>T XM_047441098.1:c.603G>A
RABL2B transcript variant X11 XM_047441091.1:c.624= XM_047441091.1:c.624G>T XM_047441091.1:c.624G>A
RABL2B transcript variant X20 XM_047441099.1:c.603= XM_047441099.1:c.603G>T XM_047441099.1:c.603G>A
RABL2B transcript variant X17 XM_047441096.1:c.606= XM_047441096.1:c.606G>T XM_047441096.1:c.606G>A
RABL2B transcript variant X13 XM_047441093.1:c.624= XM_047441093.1:c.624G>T XM_047441093.1:c.624G>A
RABL2B transcript variant X14 XM_047441094.1:c.621= XM_047441094.1:c.621G>T XM_047441094.1:c.621G>A
RABL2B transcript variant 23 NM_001394054.1:c.606= NM_001394054.1:c.606G>T NM_001394054.1:c.606G>A
RABL2B transcript variant X4 XM_047441086.1:c.636= XM_047441086.1:c.636G>T XM_047441086.1:c.636G>A
RABL2B transcript variant 24 NM_001394055.1:c.606= NM_001394055.1:c.606G>T NM_001394055.1:c.606G>A
RABL2B transcript variant X22 XM_047441100.1:c.603= XM_047441100.1:c.603G>T XM_047441100.1:c.603G>A
RABL2B transcript variant X5 XM_047441087.1:c.636= XM_047441087.1:c.636G>T XM_047441087.1:c.636G>A
RABL2B transcript variant X18 XM_047441097.1:c.606= XM_047441097.1:c.606G>T XM_047441097.1:c.606G>A
RABL2B transcript variant X8 XM_047441089.1:c.633= XM_047441089.1:c.633G>T XM_047441089.1:c.633G>A
RABL2B transcript variant X12 XM_047441092.1:c.624= XM_047441092.1:c.624G>T XM_047441092.1:c.624G>A
RABL2B transcript variant X23 XM_047441101.1:c.603= XM_047441101.1:c.603G>T XM_047441101.1:c.603G>A
rab-like protein 2B isoform 2 NP_009012.1:p.Glu201= NP_009012.1:p.Glu201Asp NP_009012.1:p.Glu201=
rab-like protein 2B isoform 1 NP_001124393.1:p.Glu202= NP_001124393.1:p.Glu202Asp NP_001124393.1:p.Glu202=
rab-like protein 2B isoform 3 NP_001124395.1:p.Glu211= NP_001124395.1:p.Glu211Asp NP_001124395.1:p.Glu211=
rab-like protein 2B isoform 1 NP_001124392.1:p.Glu202= NP_001124392.1:p.Glu202Asp NP_001124392.1:p.Glu202=
rab-like protein 2B isoform 1 NP_001003789.1:p.Glu202= NP_001003789.1:p.Glu202Asp NP_001003789.1:p.Glu202=
rab-like protein 2B isoform 2 NP_001124394.1:p.Glu201= NP_001124394.1:p.Glu201Asp NP_001124394.1:p.Glu201=
rab-like protein 2B isoform 1 NP_001124391.1:p.Glu202= NP_001124391.1:p.Glu202Asp NP_001124391.1:p.Glu202=
rab-like protein 2B isoform X1 XP_016884032.1:p.Glu212= XP_016884032.1:p.Glu212Asp XP_016884032.1:p.Glu212=
rab-like protein 2B isoform X2 XP_016884036.1:p.Glu211= XP_016884036.1:p.Glu211Asp XP_016884036.1:p.Glu211=
rab-like protein 2B isoform X5 XP_016884041.1:p.Glu202= XP_016884041.1:p.Glu202Asp XP_016884041.1:p.Glu202=
rab-like protein 2B isoform X6 XP_016884045.1:p.Glu201= XP_016884045.1:p.Glu201Asp XP_016884045.1:p.Glu201=
rab-like protein 2B isoform X1 XP_016884033.1:p.Glu212= XP_016884033.1:p.Glu212Asp XP_016884033.1:p.Glu212=
rab-like protein 2B isoform 1 NP_001336933.1:p.Glu202= NP_001336933.1:p.Glu202Asp NP_001336933.1:p.Glu202=
rab-like protein 2B isoform 4 NP_001336938.1:p.Glu212= NP_001336938.1:p.Glu212Asp NP_001336938.1:p.Glu212=
rab-like protein 2B isoform 3 NP_001336943.1:p.Glu211= NP_001336943.1:p.Glu211Asp NP_001336943.1:p.Glu211=
rab-like protein 2B isoform X1 XP_016884035.1:p.Glu212= XP_016884035.1:p.Glu212Asp XP_016884035.1:p.Glu212=
rab-like protein 2B isoform 4 NP_001336941.1:p.Glu212= NP_001336941.1:p.Glu212Asp NP_001336941.1:p.Glu212=
rab-like protein 2B isoform 3 NP_001336942.1:p.Glu211= NP_001336942.1:p.Glu211Asp NP_001336942.1:p.Glu211=
rab-like protein 2B isoform 5 NP_001336946.1:p.Glu208= NP_001336946.1:p.Glu208Asp NP_001336946.1:p.Glu208=
rab-like protein 2B isoform 2 NP_001336936.1:p.Glu201= NP_001336936.1:p.Glu201Asp NP_001336936.1:p.Glu201=
rab-like protein 2B isoform 1 NP_001336932.1:p.Glu202= NP_001336932.1:p.Glu202Asp NP_001336932.1:p.Glu202=
rab-like protein 2B isoform 2 NP_001336934.1:p.Glu201= NP_001336934.1:p.Glu201Asp NP_001336934.1:p.Glu201=
rab-like protein 2B isoform 4 NP_001336937.1:p.Glu212= NP_001336937.1:p.Glu212Asp NP_001336937.1:p.Glu212=
rab-like protein 2B isoform 5 NP_001336945.1:p.Glu208= NP_001336945.1:p.Glu208Asp NP_001336945.1:p.Glu208=
rab-like protein 2B isoform 2 NP_001336935.1:p.Glu201= NP_001336935.1:p.Glu201Asp NP_001336935.1:p.Glu201=
rab-like protein 2B isoform X4 XP_016884040.1:p.Glu207= XP_016884040.1:p.Glu207Asp XP_016884040.1:p.Glu207=
rab-like protein 2B isoform 4 NP_001336940.1:p.Glu212= NP_001336940.1:p.Glu212Asp NP_001336940.1:p.Glu212=
rab-like protein 2B isoform 4 NP_001336939.1:p.Glu212= NP_001336939.1:p.Glu212Asp NP_001336939.1:p.Glu212=
rab-like protein 2B isoform 3 NP_001336944.1:p.Glu211= NP_001336944.1:p.Glu211Asp NP_001336944.1:p.Glu211=
rab-like protein 2B isoform X1 XP_047297041.1:p.Glu212= XP_047297041.1:p.Glu212Asp XP_047297041.1:p.Glu212=
rab-like protein 2B isoform X2 XP_047297044.1:p.Glu211= XP_047297044.1:p.Glu211Asp XP_047297044.1:p.Glu211=
rab-like protein 2B isoform X3 XP_047297046.1:p.Glu208= XP_047297046.1:p.Glu208Asp XP_047297046.1:p.Glu208=
rab-like protein 2B isoform X5 XP_047297051.1:p.Glu202= XP_047297051.1:p.Glu202Asp XP_047297051.1:p.Glu202=
rab-like protein 2B isoform X6 XP_047297054.1:p.Glu201= XP_047297054.1:p.Glu201Asp XP_047297054.1:p.Glu201=
rab-like protein 2B isoform X3 XP_047297047.1:p.Glu208= XP_047297047.1:p.Glu208Asp XP_047297047.1:p.Glu208=
rab-like protein 2B isoform X6 XP_047297055.1:p.Glu201= XP_047297055.1:p.Glu201Asp XP_047297055.1:p.Glu201=
rab-like protein 2B isoform X5 XP_047297052.1:p.Glu202= XP_047297052.1:p.Glu202Asp XP_047297052.1:p.Glu202=
rab-like protein 2B isoform X3 XP_047297049.1:p.Glu208= XP_047297049.1:p.Glu208Asp XP_047297049.1:p.Glu208=
rab-like protein 2B isoform X4 XP_047297050.1:p.Glu207= XP_047297050.1:p.Glu207Asp XP_047297050.1:p.Glu207=
rab-like protein 2B isoform 1 NP_001380983.1:p.Glu202= NP_001380983.1:p.Glu202Asp NP_001380983.1:p.Glu202=
rab-like protein 2B isoform X1 XP_047297042.1:p.Glu212= XP_047297042.1:p.Glu212Asp XP_047297042.1:p.Glu212=
rab-like protein 2B isoform 1 NP_001380984.1:p.Glu202= NP_001380984.1:p.Glu202Asp NP_001380984.1:p.Glu202=
rab-like protein 2B isoform X6 XP_047297056.1:p.Glu201= XP_047297056.1:p.Glu201Asp XP_047297056.1:p.Glu201=
rab-like protein 2B isoform X1 XP_047297043.1:p.Glu212= XP_047297043.1:p.Glu212Asp XP_047297043.1:p.Glu212=
rab-like protein 2B isoform X5 XP_047297053.1:p.Glu202= XP_047297053.1:p.Glu202Asp XP_047297053.1:p.Glu202=
rab-like protein 2B isoform X2 XP_047297045.1:p.Glu211= XP_047297045.1:p.Glu211Asp XP_047297045.1:p.Glu211=
rab-like protein 2B isoform X3 XP_047297048.1:p.Glu208= XP_047297048.1:p.Glu208Asp XP_047297048.1:p.Glu208=
rab-like protein 2B isoform X6 XP_047297057.1:p.Glu201= XP_047297057.1:p.Glu201Asp XP_047297057.1:p.Glu201=
Help

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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4366570419 Apr 27, 2021 (155)
2 TOPMED ss5113274754 Apr 27, 2021 (155)
3 TOPMED ss5113274755 Apr 27, 2021 (155)
4 gnomAD - Genomes NC_000022.11 - 50768860 Apr 27, 2021 (155)
5 TopMed

Submission ignored due to conflicting rows:
Row 388383701 (NC_000022.11:50768859:C:A 1/264690)
Row 388383702 (NC_000022.11:50768859:C:T 1/264690)

- Apr 27, 2021 (155)
6 TopMed

Submission ignored due to conflicting rows:
Row 388383701 (NC_000022.11:50768859:C:A 1/264690)
Row 388383702 (NC_000022.11:50768859:C:T 1/264690)

- Apr 27, 2021 (155)
7 ALFA NC_000022.11 - 50768860 Apr 27, 2021 (155)
Help

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
1998002617, ss5113274754 NC_000022.11:50768859:C:A NC_000022.11:50768859:C:A (self)
573368263, 1998002617, ss4366570419, ss5113274755 NC_000022.11:50768859:C:T NC_000022.11:50768859:C:T (self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2415320922 NC_000022.10:51207287:C:A NC_000022.11:50768859:C:A
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1404778989

Help

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
Top Help

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