Canonical Allele Identifier: CA16617082

Gene: GJC2

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228158333del , CM000663.2:g.228158333del	GRCh38
NC_000001.10:g.228346034del , CM000663.1:g.228346034del	GRCh37
NC_000001.9:g.226412657del	NCBI36
NG_011838.1:g.13482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366714.3:c.575del MANE Select	ENSP00000355675.2:p.Pro192ArgfsTer18
ENST00000366714.2:c.575del	ENSP00000355675.2:p.Pro192ArgfsTer18
NM_020435.3:c.575del	NP_065168.2:p.Pro192ArgfsTer18
NM_020435.4:c.575del MANE Select	NP_065168.2:p.Pro192ArgfsTer18