Canonical Allele Identifier: CA8738738
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 382505
ClinVar RCV Id: RCV001426421 RCV002339013
dbSNP Id: rs573888708
ExAC: 17:68171693 C / T
gnomAD v2: 17-68171693-C-T
gnomAD v3: 17-70175552-C-T
gnomAD v4: 17-70175552-C-T
COSMIC: COSM2975894
MyVariant Identifiers: chr17:g.68171693C>T (hg19) chr17:g.70175552C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175552C>T , CM000679.2:g.70175552C>T GRCh38
NC_000017.10:g.68171693C>T , CM000679.1:g.68171693C>T GRCh37
NC_000017.9:g.65683288C>T NCBI36
NG_008798.1:g.11018C>T , LRG_328:g.11018C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.513C>T MANE Select ENSP00000243457.2:p.Ile171=
ENST00000243457.3:c.513C>T ENSP00000243457.2:p.Ile171=
ENST00000535240.1:c.513C>T ENSP00000441848.1:p.Ile171=
NM_000891.2:c.513C>T , LRG_328t1:c.513C>T NP_000882.1:p.Ile171=
XM_011524779.1:c.513C>T XP_011523081.1:p.Ile171=
NM_000891.3:c.513C>T MANE Select NP_000882.1:p.Ile171=
Search 100 bp 5'
Search 100 bp 3'