Canonical Allele Identifier: CA8738686
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 509930
ClinVar RCV Id: RCV000613303
dbSNP Id: rs768120590
ExAC: 17:68171240 G / A
gnomAD v2: 17-68171240-G-A
gnomAD v4: 17-70175099-G-A
MyVariant Identifiers: chr17:g.68171240G>A (hg19) chr17:g.70175099G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175099G>A , CM000679.2:g.70175099G>A GRCh38
NC_000017.10:g.68171240G>A , CM000679.1:g.68171240G>A GRCh37
NC_000017.9:g.65682835G>A NCBI36
NG_008798.1:g.10565G>A , LRG_328:g.10565G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.60G>A MANE Select ENSP00000243457.2:p.Lys20=
ENST00000243457.3:c.60G>A ENSP00000243457.2:p.Lys20=
ENST00000535240.1:c.60G>A ENSP00000441848.1:p.Lys20=
NM_000891.2:c.60G>A , LRG_328t1:c.60G>A NP_000882.1:p.Lys20=
XM_011524779.1:c.60G>A XP_011523081.1:p.Lys20=
NM_000891.3:c.60G>A MANE Select NP_000882.1:p.Lys20=
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Search 100 bp 3'