Canonical Allele Identifier: CA345096789

Gene: GJC2

Linked Data

• gnomAD v4: 1-228157807-C-A
• MyVariant Identifiers: chr1:g.228345508C>A (hg19) ; chr1:g.228157807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228157807C>A , CM000663.2:g.228157807C>A	GRCh38
NC_000001.10:g.228345508C>A , CM000663.1:g.228345508C>A	GRCh37
NC_000001.9:g.226412131C>A	NCBI36
NG_011838.1:g.12956C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366714.3:c.49C>A MANE Select	ENSP00000355675.2:p.His17Asn
ENST00000366714.2:c.49C>A	ENSP00000355675.2:p.His17Asn
NM_020435.3:c.49C>A	NP_065168.2:p.His17Asn
NM_020435.4:c.49C>A MANE Select	NP_065168.2:p.His17Asn