Canonical Allele Identifier: CA329657
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67569
ClinVar RCV Id: RCV000058306 RCV000466653 RCV000619060 RCV000791354 RCV001575542
dbSNP Id: rs199473653
gnomAD v3: 17-70175284-G-A
gnomAD v4: 17-70175284-G-A
MyVariant Identifiers: chr17:g.68171425G>A (hg19) chr17:g.70175284G>A (hg38)
PubMed: PMID:16217063 PMID:16818210 PMID:22581653 PMID:22589293 PMID:22806368 PMID:23644778 PMID:23867365 PMID:28003625
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175284G>A , CM000679.2:g.70175284G>A GRCh38
NC_000017.10:g.68171425G>A , CM000679.1:g.68171425G>A GRCh37
NC_000017.9:g.65683020G>A NCBI36
NG_008798.1:g.10750G>A , LRG_328:g.10750G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.245G>A MANE Select ENSP00000243457.2:p.Arg82Gln
ENST00000243457.3:c.245G>A ENSP00000243457.2:p.Arg82Gln
ENST00000535240.1:c.245G>A ENSP00000441848.1:p.Arg82Gln
NM_000891.2:c.245G>A , LRG_328t1:c.245G>A NP_000882.1:p.Arg82Gln
XM_011524779.1:c.245G>A XP_011523081.1:p.Arg82Gln
NM_000891.3:c.245G>A MANE Select NP_000882.1:p.Arg82Gln
Search 100 bp 5'
Search 100 bp 3'