Canonical Allele Identifier: CA345096778
Gene: GJC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228157802A>T , CM000663.2:g.228157802A>T GRCh38
NC_000001.10:g.228345503A>T , CM000663.1:g.228345503A>T GRCh37
NC_000001.9:g.226412126A>T NCBI36
NG_011838.1:g.12951A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.44A>T MANE Select ENSP00000355675.2:p.Glu15Val
ENST00000366714.2:c.44A>T ENSP00000355675.2:p.Glu15Val
NM_020435.3:c.44A>T NP_065168.2:p.Glu15Val
NM_020435.4:c.44A>T MANE Select NP_065168.2:p.Glu15Val