Canonical Allele Identifier: CA204387495
Gene: GAD2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.26216756G>A
GRCh37 chr10:g.26505685G>A
gnomAD v2:
10:26505685 G / A
gnomAD v3:
10:26216756 G / A
gnomAD v4:
chr10-26216756-G-A
Joint Max Group AF 0.00030323 (AFR)
Genomes Max Group AF 0.00016873 (SAS)
Exomes Max Group AF 0.00042083 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26216756G>A , CM000672.2:g.26216756G>A GRCh38
NC_000010.10:g.26505685G>A , CM000672.1:g.26505685G>A GRCh37
NC_000010.9:g.26545691G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000259271.7:c.-54G>A ENSP00000259271.3:n.-54G>A
ENST00000376261.7:c.-54G>A ENSP00000365437.3:n.-54G>A
ENST00000428517.2:c.-54G>A ENSP00000390434.2:n.-54G>A
NM_000818.2:c.-54G>A NP_000809.1:n.-54G>A
NM_001134366.1:c.-54G>A NP_001127838.1:n.-54G>A
NM_000818.3:c.-54G>A NP_000809.1:n.-54G>A
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