Canonical Allele Identifier: CA5445636
Gene: GAD2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26216765C>T , CM000672.2:g.26216765C>T GRCh38
NC_000010.10:g.26505694C>T , CM000672.1:g.26505694C>T GRCh37
NC_000010.9:g.26545700C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000259271.7:c.-45C>T ENSP00000259271.3:n.-45C>T
ENST00000376261.7:c.-45C>T ENSP00000365437.3:n.-45C>T
ENST00000428517.2:c.-45C>T ENSP00000390434.2:n.-45C>T
NM_000818.2:c.-45C>T NP_000809.1:n.-45C>T
NM_001134366.1:c.-45C>T NP_001127838.1:n.-45C>T
NM_000818.3:c.-45C>T NP_000809.1:n.-45C>T