Canonical Allele Identifier: CA1225623902
Community Standard Title: NM_020435.4(GJC2):c.433G= (p.Glu145=)
Gene: GJC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158191G= , CM000663.2:g.228158191G= GRCh38
NC_000001.10:g.228345892G= , CM000663.1:g.228345892G= GRCh37
NC_000001.9:g.226412515G= NCBI36
NG_011838.1:g.13340G=

Transcript Alleles

HGVS Amino-acid Change
NM_020435.4:c.433G= MANE Select NP_065168.2:p.Glu145=
ENST00000366714.3:c.433G= MANE Select ENSP00000355675.2:p.Glu145=
NM_020435.3:c.433G= NP_065168.2:p.Glu145=
ENST00000366714.2:c.433G= ENSP00000355675.2:p.Glu145=