Canonical Allele Identifier: CA400859711
Gene: KCNJ2 HGNC NCBI

Linked Data

dbSNP Id: rs2074384248
gnomAD v3: 17-70175073-G-A
gnomAD v4: 17-70175073-G-A
COSMIC: COSM983652
MyVariant Identifiers: chr17:g.68171214G>A (hg19) chr17:g.70175073G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175073G>A , CM000679.2:g.70175073G>A GRCh38
NC_000017.10:g.68171214G>A , CM000679.1:g.68171214G>A GRCh37
NC_000017.9:g.65682809G>A NCBI36
NG_008798.1:g.10539G>A , LRG_328:g.10539G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.34G>A MANE Select ENSP00000243457.2:p.Val12Ile
ENST00000243457.3:c.34G>A ENSP00000243457.2:p.Val12Ile
ENST00000535240.1:c.34G>A ENSP00000441848.1:p.Val12Ile
NM_000891.2:c.34G>A , LRG_328t1:c.34G>A NP_000882.1:p.Val12Ile
XM_011524779.1:c.34G>A XP_011523081.1:p.Val12Ile
NM_000891.3:c.34G>A MANE Select NP_000882.1:p.Val12Ile
Search 100 bp 5'
Search 100 bp 3'