Canonical Allele Identifier: CA128946

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 30121
• ClinVar RCV Id: RCV000023029 ; RCV000148540 ; RCV000170978 ; RCV000544361 ; RCV001127504 ; RCV001127505 ; RCV002433466 ; RCV003318334
• 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

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