Canonical Allele Identifier: CA8738774
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 951649
ClinVar RCV Id: RCV001223612
dbSNP Id: rs758054840
ExAC: 17:68172039 A / C
gnomAD v2: 17-68172039-A-C
gnomAD v4: 17-70175898-A-C
COSMIC: COSM5676482
MyVariant Identifiers: chr17:g.68172039A>C (hg19) chr17:g.70175898A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175898A>C , CM000679.2:g.70175898A>C GRCh38
NC_000017.10:g.68172039A>C , CM000679.1:g.68172039A>C GRCh37
NC_000017.9:g.65683634A>C NCBI36
NG_008798.1:g.11364A>C , LRG_328:g.11364A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.859A>C MANE Select ENSP00000243457.2:p.Ile287Leu
ENST00000243457.3:c.859A>C ENSP00000243457.2:p.Ile287Leu
ENST00000535240.1:c.859A>C ENSP00000441848.1:p.Ile287Leu
NM_000891.2:c.859A>C , LRG_328t1:c.859A>C NP_000882.1:p.Ile287Leu
XM_011524779.1:c.859A>C XP_011523081.1:p.Ile287Leu
NM_000891.3:c.859A>C MANE Select NP_000882.1:p.Ile287Leu
Search 100 bp 5'
Search 100 bp 3'