Canonical Allele Identifier: CA423738821
Gene: GJC2 HGNC NCBI

Linked Data

gnomAD v4: 1-228158121-C-A
MyVariant Identifiers: chr1:g.228345822C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158121C>A , CM000663.2:g.228158121C>A GRCh38
NC_000001.10:g.228345822C>A , CM000663.1:g.228345822C>A GRCh37
NC_000001.9:g.226412445C>A NCBI36
NG_011838.1:g.13270C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366714.3:c.363C>A MANE Select ENSP00000355675.2:p.Arg121=
ENST00000366714.2:c.363C>A ENSP00000355675.2:p.Arg121=
NM_020435.3:c.363C>A NP_065168.2:p.Arg121=
NM_020435.4:c.363C>A MANE Select NP_065168.2:p.Arg121=
Search 100 bp 5'
Search 100 bp 3'