Canonical Allele Identifier: CA1897945151
Gene: GAD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26278252C>T , CM000672.2:g.26278252C>T GRCh38
NC_000010.10:g.26567181C>T , CM000672.1:g.26567181C>T GRCh37
NC_000010.9:g.26607187C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376261.8:c.1158-2757C>T MANE Select ENSP00000365437.3:n.1158-2757C>T
ENST00000648567.1:c.816-2757C>T ENSP00000498009.1:n.816-2757C>T
ENST00000259271.7:c.1158-2757C>T ENSP00000259271.3:n.1158-2757C>T
ENST00000376261.7:c.1158-2757C>T ENSP00000365437.3:n.1158-2757C>T
NM_000818.2:c.1158-2757C>T NP_000809.1:n.1158-2757C>T
NM_001134366.1:c.1158-2757C>T NP_001127838.1:n.1158-2757C>T
NM_001134366.2:c.1158-2757C>T MANE Select NP_001127838.1:n.1158-2757C>T
NM_000818.3:c.1158-2757C>T NP_000809.1:n.1158-2757C>T