Canonical Allele Identifier: CA423738822
Gene: GJC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2725191
ClinVar RCV Id: RCV003588096
dbSNP Id: rs1166132864
gnomAD v4: 1-228158121-C-G
MyVariant Identifiers: chr1:g.228345822C>G (hg19) chr1:g.228158121C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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