Canonical Allele Identifier: CA423546356
Gene: GJC2 HGNC NCBI

Linked Data

dbSNP Id: rs75469429
gnomAD v2: 1-228345567-C-A
gnomAD v4: 1-228157866-C-A
MyVariant Identifiers: chr1:g.228345567C>A (hg19) chr1:g.228157866C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228157866C>A , CM000663.2:g.228157866C>A GRCh38
NC_000001.10:g.228345567C>A , CM000663.1:g.228345567C>A GRCh37
NC_000001.9:g.226412190C>A NCBI36
NG_011838.1:g.13015C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366714.3:c.108C>A MANE Select ENSP00000355675.2:p.Ile36=
ENST00000366714.2:c.108C>A ENSP00000355675.2:p.Ile36=
NM_020435.3:c.108C>A NP_065168.2:p.Ile36=
NM_020435.4:c.108C>A MANE Select NP_065168.2:p.Ile36=
Search 100 bp 5'
Search 100 bp 3'