Canonical Allele Identifier: CA8738733

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 1510659
• ClinVar RCV Id: RCV002014030 ; RCV003355771
• dbSNP Id: rs767934529
• ExAC: 17:68171646 A / G
• gnomAD v2: 17-68171646-A-G
• gnomAD v3: 17-70175505-A-G
• gnomAD v4: 17-70175505-A-G
• MyVariant Identifiers: chr17:g.68171646A>G (hg19) ; chr17:g.70175505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175505A>G , CM000679.2:g.70175505A>G	GRCh38
NC_000017.10:g.68171646A>G , CM000679.1:g.68171646A>G	GRCh37
NC_000017.9:g.65683241A>G	NCBI36
NG_008798.1:g.10971A>G , LRG_328:g.10971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.466A>G MANE Select	ENSP00000243457.2:p.Ile156Val
ENST00000243457.3:c.466A>G	ENSP00000243457.2:p.Ile156Val
ENST00000535240.1:c.466A>G	ENSP00000441848.1:p.Ile156Val
NM_000891.2:c.466A>G , LRG_328t1:c.466A>G	NP_000882.1:p.Ile156Val
XM_011524779.1:c.466A>G	XP_011523081.1:p.Ile156Val
NM_000891.3:c.466A>G MANE Select	NP_000882.1:p.Ile156Val