Canonical Allele Identifier: CA400860643
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2190148
ClinVar RCV Id: RCV002612088
gnomAD v4: 17-70175498-A-C
MyVariant Identifiers: chr17:g.68171639A>C (hg19) chr17:g.70175498A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175498A>C , CM000679.2:g.70175498A>C GRCh38
NC_000017.10:g.68171639A>C , CM000679.1:g.68171639A>C GRCh37
NC_000017.9:g.65683234A>C NCBI36
NG_008798.1:g.10964A>C , LRG_328:g.10964A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.459A>C MANE Select ENSP00000243457.2:p.Glu153Asp
ENST00000243457.3:c.459A>C ENSP00000243457.2:p.Glu153Asp
ENST00000535240.1:c.459A>C ENSP00000441848.1:p.Glu153Asp
NM_000891.2:c.459A>C , LRG_328t1:c.459A>C NP_000882.1:p.Glu153Asp
XM_011524779.1:c.459A>C XP_011523081.1:p.Glu153Asp
NM_000891.3:c.459A>C MANE Select NP_000882.1:p.Glu153Asp
Search 100 bp 5'
Search 100 bp 3'