Canonical Allele Identifier: CA345097554
Gene: GJC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 938491
ClinVar RCV Id: RCV001207717
dbSNP Id: rs1171061411
gnomAD v4: 1-228158122-C-G
MyVariant Identifiers: chr1:g.228345823C>G (hg19) chr1:g.228158122C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158122C>G , CM000663.2:g.228158122C>G GRCh38
NC_000001.10:g.228345823C>G , CM000663.1:g.228345823C>G GRCh37
NC_000001.9:g.226412446C>G NCBI36
NG_011838.1:g.13271C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366714.3:c.364C>G MANE Select ENSP00000355675.2:p.Arg122Gly
ENST00000366714.2:c.364C>G ENSP00000355675.2:p.Arg122Gly
NM_020435.3:c.364C>G NP_065168.2:p.Arg122Gly
NM_020435.4:c.364C>G MANE Select NP_065168.2:p.Arg122Gly
Search 100 bp 5'
Search 100 bp 3'