Canonical Allele Identifier: CA329702

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 67588
• ClinVar RCV Id: RCV000058330 ; RCV000194837 ; RCV001268135 ; RCV003764732
• dbSNP Id: rs104894579
• MyVariant Identifiers: chr17:g.68172079G>A (hg19) ; chr17:g.70175938G>A (hg38)
• PubMed: PMID:12796536 ; PMID:15831539 ; PMID:16217063 ; PMID:20301441 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175938G>A , CM000679.2:g.70175938G>A	GRCh38
NC_000017.10:g.68172079G>A , CM000679.1:g.68172079G>A	GRCh37
NC_000017.9:g.65683674G>A	NCBI36
NG_008798.1:g.11404G>A , LRG_328:g.11404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.899G>A MANE Select	ENSP00000243457.2:p.Gly300Asp
ENST00000243457.3:c.899G>A	ENSP00000243457.2:p.Gly300Asp
ENST00000535240.1:c.899G>A	ENSP00000441848.1:p.Gly300Asp
NM_000891.2:c.899G>A , LRG_328t1:c.899G>A	NP_000882.1:p.Gly300Asp
XM_011524779.1:c.899G>A	XP_011523081.1:p.Gly300Asp
NM_000891.3:c.899G>A MANE Select	NP_000882.1:p.Gly300Asp