Canonical Allele Identifier: CA345096992
Gene: GJC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.228345605A>C (hg19) chr1:g.228157904A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228157904A>C , CM000663.2:g.228157904A>C GRCh38
NC_000001.10:g.228345605A>C , CM000663.1:g.228345605A>C GRCh37
NC_000001.9:g.226412228A>C NCBI36
NG_011838.1:g.13053A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366714.3:c.146A>C MANE Select ENSP00000355675.2:p.Asp49Ala
ENST00000366714.2:c.146A>C ENSP00000355675.2:p.Asp49Ala
NM_020435.3:c.146A>C NP_065168.2:p.Asp49Ala
NM_020435.4:c.146A>C MANE Select NP_065168.2:p.Asp49Ala
Search 100 bp 5'
Search 100 bp 3'