Canonical Allele Identifier: CA501700163
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1080589
ClinVar RCV Id: RCV001396286
dbSNP Id: rs1217136489
gnomAD v2: 17-68171255-A-C
gnomAD v3: 17-70175114-A-C
gnomAD v4: 17-70175114-A-C
MyVariant Identifiers: chr17:g.68171255A>C (hg19) chr17:g.70175114A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175114A>C , CM000679.2:g.70175114A>C GRCh38
NC_000017.10:g.68171255A>C , CM000679.1:g.68171255A>C GRCh37
NC_000017.9:g.65682850A>C NCBI36
NG_008798.1:g.10580A>C , LRG_328:g.10580A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.75A>C MANE Select ENSP00000243457.2:p.Ala25=
ENST00000243457.3:c.75A>C ENSP00000243457.2:p.Ala25=
ENST00000535240.1:c.75A>C ENSP00000441848.1:p.Ala25=
NM_000891.2:c.75A>C , LRG_328t1:c.75A>C NP_000882.1:p.Ala25=
XM_011524779.1:c.75A>C XP_011523081.1:p.Ala25=
NM_000891.3:c.75A>C MANE Select NP_000882.1:p.Ala25=
Search 100 bp 5'
Search 100 bp 3'