Canonical Allele Identifier: CA345097158
Gene: GJC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.228345677C>A (hg19) chr1:g.228157976C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228157976C>A , CM000663.2:g.228157976C>A GRCh38
NC_000001.10:g.228345677C>A , CM000663.1:g.228345677C>A GRCh37
NC_000001.9:g.226412300C>A NCBI36
NG_011838.1:g.13125C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366714.3:c.218C>A MANE Select ENSP00000355675.2:p.Pro73His
ENST00000366714.2:c.218C>A ENSP00000355675.2:p.Pro73His
NM_020435.3:c.218C>A NP_065168.2:p.Pro73His
NM_020435.4:c.218C>A MANE Select NP_065168.2:p.Pro73His
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