Canonical Allele Identifier: CA341352
Gene: GNAT2 HGNC NCBI
GNAI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 15925
ClinVar RCV Id: RCV000017276
dbSNP Id: rs397515384
MyVariant Identifiers: chr1:g.110151229C>T (hg19) chr1:g.109608607C>T (hg38)
PubMed: PMID:12077706 PMID:20301591
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109608607C>T , CM000663.2:g.109608607C>T GRCh38
NC_000001.10:g.110151229C>T , CM000663.1:g.110151229C>T GRCh37
NC_000001.9:g.109952752C>T NCBI36
NG_009099.1:g.9477G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351050.8:c.461+24G>A (GNAT2) ENSP00000251337.3:n.461+24G>A
ENST00000679935.1:c.461+24G>A (GNAT2) MANE Select ENSP00000505083.1:n.461+24G>A
ENST00000351050.7:c.461+24G>A (GNAT2) ENSP00000251337.3:n.461+24G>A
ENST00000369851.5:c.*16285C>T (GNAI3) ENSP00000358867.4:n.*16285C>T
NM_005272.3:c.461+24G>A (GNAT2) NP_005263.1:n.461+24G>A
XM_011541264.1:c.461+24G>A (GNAT2) XP_011539566.1:n.461+24G>A
XM_011541265.1:c.461+24G>A (GNAT2) XP_011539567.1:n.461+24G>A
XM_011541266.1:c.461+24G>A (GNAT2) XP_011539568.1:n.461+24G>A
XM_011541264.2:c.461+24G>A (GNAT2) XP_011539566.1:n.461+24G>A
NM_001377295.1:c.461+24G>A (GNAT2) NP_001364224.1:n.461+24G>A
NM_005272.5:c.461+24G>A (GNAT2) NP_005263.1:n.461+24G>A
NM_001377295.2:c.461+24G>A (GNAT2) MANE Select NP_001364224.1:n.461+24G>A
NM_001379232.1:c.461+24G>A (GNAT2) NP_001366161.1:n.461+24G>A
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