Canonical Allele Identifier: CA400861790
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2179258
ClinVar RCV Id: RCV002591846
MyVariant Identifiers: chr17:g.68171901G>A (hg19) chr17:g.70175760G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175760G>A , CM000679.2:g.70175760G>A GRCh38
NC_000017.10:g.68171901G>A , CM000679.1:g.68171901G>A GRCh37
NC_000017.9:g.65683496G>A NCBI36
NG_008798.1:g.11226G>A , LRG_328:g.11226G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.721G>A MANE Select ENSP00000243457.2:p.Glu241Lys
ENST00000243457.3:c.721G>A ENSP00000243457.2:p.Glu241Lys
ENST00000535240.1:c.721G>A ENSP00000441848.1:p.Glu241Lys
NM_000891.2:c.721G>A , LRG_328t1:c.721G>A NP_000882.1:p.Glu241Lys
XM_011524779.1:c.721G>A XP_011523081.1:p.Glu241Lys
NM_000891.3:c.721G>A MANE Select NP_000882.1:p.Glu241Lys
Search 100 bp 5'
Search 100 bp 3'