Canonical Allele Identifier: CA8738749

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 1464976
• ClinVar RCV Id: RCV001998088
• dbSNP Id: rs759793133
• ExAC: 17:68171784 G / A
• gnomAD v2: 17-68171784-G-A
• gnomAD v4: 17-70175643-G-A
• MyVariant Identifiers: chr17:g.68171784G>A (hg19) ; chr17:g.70175643G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175643G>A , CM000679.2:g.70175643G>A	GRCh38
NC_000017.10:g.68171784G>A , CM000679.1:g.68171784G>A	GRCh37
NC_000017.9:g.65683379G>A	NCBI36
NG_008798.1:g.11109G>A , LRG_328:g.11109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.604G>A MANE Select	ENSP00000243457.2:p.Ala202Thr
ENST00000243457.3:c.604G>A	ENSP00000243457.2:p.Ala202Thr
ENST00000535240.1:c.604G>A	ENSP00000441848.1:p.Ala202Thr
NM_000891.2:c.604G>A , LRG_328t1:c.604G>A	NP_000882.1:p.Ala202Thr
XM_011524779.1:c.604G>A	XP_011523081.1:p.Ala202Thr
NM_000891.3:c.604G>A MANE Select	NP_000882.1:p.Ala202Thr