Canonical Allele Identifier: CA345096997
Gene: GJC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1697235
ClinVar RCV Id: RCV002267577
dbSNP Id: rs1255327063
gnomAD v2: 1-228345607-G-A
gnomAD v4: 1-228157906-G-A
MyVariant Identifiers: chr1:g.228345607G>A (hg19) chr1:g.228157906G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228157906G>A , CM000663.2:g.228157906G>A GRCh38
NC_000001.10:g.228345607G>A , CM000663.1:g.228345607G>A GRCh37
NC_000001.9:g.226412230G>A NCBI36
NG_011838.1:g.13055G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366714.3:c.148G>A MANE Select ENSP00000355675.2:p.Glu50Lys
ENST00000366714.2:c.148G>A ENSP00000355675.2:p.Glu50Lys
NM_020435.3:c.148G>A NP_065168.2:p.Glu50Lys
NM_020435.4:c.148G>A MANE Select NP_065168.2:p.Glu50Lys
Search 100 bp 5'
Search 100 bp 3'