Canonical Allele Identifier: CA128946
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 30121
ClinVar RCV Id: RCV000023029 RCV000148540 RCV000170978 RCV000544361 RCV001127504 RCV001127505 RCV002433466
dbSNP Id: rs147750704
ExAC: 17:68171457 G / A
gnomAD v2: 17-68171457-G-A
gnomAD v3: 17-70175316-G-A
gnomAD v4: 17-70175316-G-A
COSMIC: COSM1290750
MyVariant Identifiers: chr17:g.68171457G>A (hg19) chr17:g.70175316G>A (hg38)
PubMed: PMID:15922306 PMID:19041665 PMID:22581653
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175316G>A , CM000679.2:g.70175316G>A GRCh38
NC_000017.10:g.68171457G>A , CM000679.1:g.68171457G>A GRCh37
NC_000017.9:g.65683052G>A NCBI36
NG_008798.1:g.10782G>A , LRG_328:g.10782G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.277G>A MANE Select ENSP00000243457.2:p.Val93Ile
ENST00000243457.3:c.277G>A ENSP00000243457.2:p.Val93Ile
ENST00000535240.1:c.277G>A ENSP00000441848.1:p.Val93Ile
NM_000891.2:c.277G>A , LRG_328t1:c.277G>A NP_000882.1:p.Val93Ile
XM_011524779.1:c.277G>A XP_011523081.1:p.Val93Ile
NM_000891.3:c.277G>A MANE Select NP_000882.1:p.Val93Ile
Search 100 bp 5'
Search 100 bp 3'