Canonical Allele Identifier: CA329666

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 67573
• ClinVar RCV Id: RCV000058311 ; RCV001382882 ; RCV002470749
• dbSNP Id: rs199473378
• gnomAD v3: 17-70175469-G-A
• gnomAD v4: 17-70175469-G-A
• MyVariant Identifiers: chr17:g.68171610G>A (hg19) ; chr17:g.70175469G>A (hg38)
• PubMed: PMID:11371347 ; PMID:12163457 ; PMID:15028050 ; PMID:17221872 ; PMID:22002906 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175469G>A , CM000679.2:g.70175469G>A	GRCh38
NC_000017.10:g.68171610G>A , CM000679.1:g.68171610G>A	GRCh37
NC_000017.9:g.65683205G>A	NCBI36
NG_008798.1:g.10935G>A , LRG_328:g.10935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.430G>A MANE Select	ENSP00000243457.2:p.Gly144Ser
ENST00000243457.3:c.430G>A	ENSP00000243457.2:p.Gly144Ser
ENST00000535240.1:c.430G>A	ENSP00000441848.1:p.Gly144Ser
NM_000891.2:c.430G>A , LRG_328t1:c.430G>A	NP_000882.1:p.Gly144Ser
XM_011524779.1:c.430G>A	XP_011523081.1:p.Gly144Ser
NM_000891.3:c.430G>A MANE Select	NP_000882.1:p.Gly144Ser