Canonical Allele Identifier: CA400861034
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 660794
ClinVar RCV Id: RCV000818073
dbSNP Id: rs199473381
MyVariant Identifiers: chr17:g.68171746G>C (hg19) chr17:g.70175605G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175605G>C , CM000679.2:g.70175605G>C GRCh38
NC_000017.10:g.68171746G>C , CM000679.1:g.68171746G>C GRCh37
NC_000017.9:g.65683341G>C NCBI36
NG_008798.1:g.11071G>C , LRG_328:g.11071G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.566G>C MANE Select ENSP00000243457.2:p.Arg189Thr
ENST00000243457.3:c.566G>C ENSP00000243457.2:p.Arg189Thr
ENST00000535240.1:c.566G>C ENSP00000441848.1:p.Arg189Thr
NM_000891.2:c.566G>C , LRG_328t1:c.566G>C NP_000882.1:p.Arg189Thr
XM_011524779.1:c.566G>C XP_011523081.1:p.Arg189Thr
NM_000891.3:c.566G>C MANE Select NP_000882.1:p.Arg189Thr
Search 100 bp 5'
Search 100 bp 3'