Canonical Allele Identifier: CA501700125
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1547170
ClinVar RCV Id: RCV002177298
dbSNP Id: rs2144376348
gnomAD v4: 17-70175081-A-G
MyVariant Identifiers: chr17:g.68171222A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175081A>G , CM000679.2:g.70175081A>G GRCh38
NC_000017.10:g.68171222A>G , CM000679.1:g.68171222A>G GRCh37
NC_000017.9:g.65682817A>G NCBI36
NG_008798.1:g.10547A>G , LRG_328:g.10547A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.42A>G MANE Select ENSP00000243457.2:p.Ser14=
ENST00000243457.3:c.42A>G ENSP00000243457.2:p.Ser14=
ENST00000535240.1:c.42A>G ENSP00000441848.1:p.Ser14=
NM_000891.2:c.42A>G , LRG_328t1:c.42A>G NP_000882.1:p.Ser14=
XM_011524779.1:c.42A>G XP_011523081.1:p.Ser14=
NM_000891.3:c.42A>G MANE Select NP_000882.1:p.Ser14=
Search 100 bp 5'
Search 100 bp 3'