SNP Links for Nucleotide (Select 224611700) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:128487890 (GRCh38)
3:128206733 (GRCh37)
Canonical SPDI:: NC_000003.12:128487889:C:G
Gene:: GATA2 (Varview), GATA2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.128487890C>G, NC_000003.11:g.128206733C>G, NG_029334.1:g.10298G>C, NM_001145661.2:c.-225G>C, NM_001145661.1:c.-225G>C, NM_001145662.1:c.-225G>C, NG_068097.1:g.320C>G, NM_002050.2:c.-225G>C

Select item 147452016717.

rs1474520167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:128486191 (GRCh38)
3:128205034 (GRCh37)
Canonical SPDI:: NC_000003.12:128486190:C:A
Gene:: GATA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128486191C>A, NC_000003.11:g.128205034C>A, NG_029334.1:g.11997G>T, NM_032638.5:c.407G>T, NM_032638.4:c.407G>T, NM_001145661.2:c.407G>T, NM_001145661.1:c.407G>T, NM_001145662.1:c.407G>T, NM_002050.2:c.407G>T, NM_002050.1:c.392G>T, NP_116027.2:p.Gly136Val, NP_001139133.1:p.Gly136Val, NP_001139134.1:p.Gly136Val

Select item 147421867818.

rs1474218678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:128486885 (GRCh38)
3:128205728 (GRCh37)
Canonical SPDI:: NC_000003.12:128486884:G:A,NC_000003.12:128486884:G:T
Gene:: GATA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128486885G>A, NC_000003.12:g.128486885G>T, NC_000003.11:g.128205728G>A, NC_000003.11:g.128205728G>T, NG_029334.1:g.11303C>T, NG_029334.1:g.11303C>A, NM_032638.5:c.147C>T, NM_032638.5:c.147C>A, NM_032638.4:c.147C>T, NM_032638.4:c.147C>A, NM_001145661.2:c.147C>T, NM_001145661.2:c.147C>A, NM_001145661.1:c.147C>T, NM_001145661.1:c.147C>A, NM_001145662.1:c.147C>T, NM_001145662.1:c.147C>A, NM_002050.2:c.147C>T, NM_002050.2:c.147C>A, NM_002050.1:c.147C>T, NM_002050.1:c.147C>A, NP_116027.2:p.Phe49Leu, NP_001139133.1:p.Phe49Leu, NP_001139134.1:p.Phe49Leu

Select item 147394949119.

rs1473949491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:128480604 (GRCh38)
3:128199447 (GRCh37)
Canonical SPDI:: NC_000003.12:128480603:A:C
Gene:: GATA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.128480604A>C, NC_000003.11:g.128199447A>C, NG_029334.1:g.17584T>G, NM_032638.5:c.*415T>G, NM_032638.4:c.*415T>G, NM_001145661.2:c.*415T>G, NM_001145661.1:c.*415T>G, NM_001145662.1:c.*415T>G, NM_002050.2:c.*413T>G, NM_002050.1:c.*416T>G

Select item 147229959920.

rs1472299599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:128484001 (GRCh38)
3:128202844 (GRCh37)
Canonical SPDI:: NC_000003.12:128484000:G:A
Gene:: GATA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128484001G>A, NC_000003.11:g.128202844G>A, NG_029334.1:g.14187C>T, NM_032638.5:c.876C>T, NM_032638.4:c.876C>T, NM_001145661.2:c.876C>T, NM_001145661.1:c.876C>T, NM_001145662.1:c.876C>T, NM_002050.2:c.876C>T, NM_002050.1:c.858C>T

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