Canonical Allele Identifier: CA8738692

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 324830
• ClinVar RCV Id: RCV000308982 ; RCV000347359 ; RCV000406881 ; RCV000489623 ; RCV000795350
• dbSNP Id: rs766143485
• ExAC: 17:68171299 G / A
• gnomAD v2: 17-68171299-G-A
• gnomAD v3: 17-70175158-G-A
• gnomAD v4: 17-70175158-G-A
• MyVariant Identifiers: chr17:g.68171299G>A (hg19) ; chr17:g.68171299_68171302delinsAACA (hg19) ; chr17:g.70175158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175158G>A , CM000679.2:g.70175158G>A	GRCh38
NC_000017.10:g.68171299G>A , CM000679.1:g.68171299G>A	GRCh37
NC_000017.9:g.65682894G>A	NCBI36
NG_008798.1:g.10624G>A , LRG_328:g.10624G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000243457.4:c.119G>A MANE Select	ENSP00000243457.2:p.Arg40Gln
ENST00000243457.3:c.119G>A	ENSP00000243457.2:p.Arg40Gln
ENST00000535240.1:c.119G>A	ENSP00000441848.1:p.Arg40Gln
NM_000891.2:c.119G>A , LRG_328t1:c.119G>A	NP_000882.1:p.Arg40Gln
XM_011524779.1:c.119G>A	XP_011523081.1:p.Arg40Gln
NM_000891.3:c.119G>A MANE Select	NP_000882.1:p.Arg40Gln