Canonical Allele Identifier: CA501700110
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 506474
ClinVar RCV Id: RCV000611175 RCV002456321
dbSNP Id: rs1463813330
gnomAD v2: 17-68171213-C-T
gnomAD v4: 17-70175072-C-T
COSMIC: COSM417368
MyVariant Identifiers: chr17:g.68171213C>T (hg19) chr17:g.70175072C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175072C>T , CM000679.2:g.70175072C>T GRCh38
NC_000017.10:g.68171213C>T , CM000679.1:g.68171213C>T GRCh37
NC_000017.9:g.65682808C>T NCBI36
NG_008798.1:g.10538C>T , LRG_328:g.10538C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.33C>T MANE Select ENSP00000243457.2:p.Ile11=
ENST00000243457.3:c.33C>T ENSP00000243457.2:p.Ile11=
ENST00000535240.1:c.33C>T ENSP00000441848.1:p.Ile11=
NM_000891.2:c.33C>T , LRG_328t1:c.33C>T NP_000882.1:p.Ile11=
XM_011524779.1:c.33C>T XP_011523081.1:p.Ile11=
NM_000891.3:c.33C>T MANE Select NP_000882.1:p.Ile11=
Search 100 bp 5'
Search 100 bp 3'