Canonical Allele Identifier: CA8738764

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 691668
• ClinVar RCV Id: RCV000852469 ; RCV001322679 ; RCV001772152
• dbSNP Id: rs774461588
• ExAC: 17:68171961 A / G
• gnomAD v2: 17-68171961-A-G
• gnomAD v3: 17-70175820-A-G
• gnomAD v4: 17-70175820-A-G
• MyVariant Identifiers: chr17:g.68171961A>G (hg19) ; chr17:g.70175820A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175820A>G , CM000679.2:g.70175820A>G	GRCh38
NC_000017.10:g.68171961A>G , CM000679.1:g.68171961A>G	GRCh37
NC_000017.9:g.65683556A>G	NCBI36
NG_008798.1:g.11286A>G , LRG_328:g.11286A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.781A>G MANE Select	ENSP00000243457.2:p.Ile261Val
ENST00000243457.3:c.781A>G	ENSP00000243457.2:p.Ile261Val
ENST00000535240.1:c.781A>G	ENSP00000441848.1:p.Ile261Val
NM_000891.2:c.781A>G , LRG_328t1:c.781A>G	NP_000882.1:p.Ile261Val
XM_011524779.1:c.781A>G	XP_011523081.1:p.Ile261Val
NM_000891.3:c.781A>G MANE Select	NP_000882.1:p.Ile261Val