Canonical Allele Identifier: CA345096991
Gene: GJC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.228345604G>C (hg19) chr1:g.228157903G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228157903G>C , CM000663.2:g.228157903G>C GRCh38
NC_000001.10:g.228345604G>C , CM000663.1:g.228345604G>C GRCh37
NC_000001.9:g.226412227G>C NCBI36
NG_011838.1:g.13052G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.145G>C MANE Select ENSP00000355675.2:p.Asp49His
ENST00000366714.2:c.145G>C ENSP00000355675.2:p.Asp49His
NM_020435.3:c.145G>C NP_065168.2:p.Asp49His
NM_020435.4:c.145G>C MANE Select NP_065168.2:p.Asp49His
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Search 100 bp 3'