Canonical Allele Identifier: CA329657

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 67569
• ClinVar RCV Id: RCV000058306 ; RCV000466653 ; RCV000619060 ; RCV000791354 ; RCV001575542
• dbSNP Id: rs199473653
• gnomAD v3: 17-70175284-G-A
• gnomAD v4: 17-70175284-G-A
• MyVariant Identifiers: chr17:g.68171425G>A (hg19) ; chr17:g.70175284G>A (hg38)
• PubMed: PMID:16217063 ; PMID:16818210 ; PMID:22581653 ; PMID:22589293 ; PMID:22806368 ; PMID:23644778 ; PMID:23867365 ; PMID:28003625

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175284G>A , CM000679.2:g.70175284G>A	GRCh38
NC_000017.10:g.68171425G>A , CM000679.1:g.68171425G>A	GRCh37
NC_000017.9:g.65683020G>A	NCBI36
NG_008798.1:g.10750G>A , LRG_328:g.10750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.245G>A MANE Select	ENSP00000243457.2:p.Arg82Gln
ENST00000243457.3:c.245G>A	ENSP00000243457.2:p.Arg82Gln
ENST00000535240.1:c.245G>A	ENSP00000441848.1:p.Arg82Gln
NM_000891.2:c.245G>A , LRG_328t1:c.245G>A	NP_000882.1:p.Arg82Gln
XM_011524779.1:c.245G>A	XP_011523081.1:p.Arg82Gln
NM_000891.3:c.245G>A MANE Select	NP_000882.1:p.Arg82Gln