Canonical Allele Identifier: CA291736
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 137985
ClinVar RCV Id: RCV000126416
dbSNP Id: rs587781007
MyVariant Identifiers: chr17:g.68171953T>C (hg19) chr17:g.70175812T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175812T>C , CM000679.2:g.70175812T>C GRCh38
NC_000017.10:g.68171953T>C , CM000679.1:g.68171953T>C GRCh37
NC_000017.9:g.65683548T>C NCBI36
NG_008798.1:g.11278T>C , LRG_328:g.11278T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.773T>C MANE Select ENSP00000243457.2:p.Ile258Thr
ENST00000243457.3:c.773T>C ENSP00000243457.2:p.Ile258Thr
ENST00000535240.1:c.773T>C ENSP00000441848.1:p.Ile258Thr
NM_000891.2:c.773T>C , LRG_328t1:c.773T>C NP_000882.1:p.Ile258Thr
XM_011524779.1:c.773T>C XP_011523081.1:p.Ile258Thr
NM_000891.3:c.773T>C MANE Select NP_000882.1:p.Ile258Thr
Search 100 bp 5'
Search 100 bp 3'