Canonical Allele Identifier: CA345097014
Gene: GJC2 HGNC NCBI

Linked Data

gnomAD v4: 1-228157912-G-T
MyVariant Identifiers: chr1:g.228345613G>T (hg19) chr1:g.228157912G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228157912G>T , CM000663.2:g.228157912G>T GRCh38
NC_000001.10:g.228345613G>T , CM000663.1:g.228345613G>T GRCh37
NC_000001.9:g.226412236G>T NCBI36
NG_011838.1:g.13061G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.154G>T MANE Select ENSP00000355675.2:p.Ala52Ser
ENST00000366714.2:c.154G>T ENSP00000355675.2:p.Ala52Ser
NM_020435.3:c.154G>T NP_065168.2:p.Ala52Ser
NM_020435.4:c.154G>T MANE Select NP_065168.2:p.Ala52Ser
Search 100 bp 5'
Search 100 bp 3'