Canonical Allele Identifier: CA345096794
Gene: GJC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.228345509A>G (hg19) chr1:g.228157808A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228157808A>G , CM000663.2:g.228157808A>G GRCh38
NC_000001.10:g.228345509A>G , CM000663.1:g.228345509A>G GRCh37
NC_000001.9:g.226412132A>G NCBI36
NG_011838.1:g.12957A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.50A>G MANE Select ENSP00000355675.2:p.His17Arg
ENST00000366714.2:c.50A>G ENSP00000355675.2:p.His17Arg
NM_020435.3:c.50A>G NP_065168.2:p.His17Arg
NM_020435.4:c.50A>G MANE Select NP_065168.2:p.His17Arg
Search 100 bp 5'
Search 100 bp 3'