Canonical Allele Identifier: CA501700783
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2149036
ClinVar RCV Id: RCV003063694
MyVariant Identifiers: chr17:g.68171690C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175549C>T , CM000679.2:g.70175549C>T GRCh38
NC_000017.10:g.68171690C>T , CM000679.1:g.68171690C>T GRCh37
NC_000017.9:g.65683285C>T NCBI36
NG_008798.1:g.11015C>T , LRG_328:g.11015C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.510C>T MANE Select ENSP00000243457.2:p.Ile170=
ENST00000243457.3:c.510C>T ENSP00000243457.2:p.Ile170=
ENST00000535240.1:c.510C>T ENSP00000441848.1:p.Ile170=
NM_000891.2:c.510C>T , LRG_328t1:c.510C>T NP_000882.1:p.Ile170=
XM_011524779.1:c.510C>T XP_011523081.1:p.Ile170=
NM_000891.3:c.510C>T MANE Select NP_000882.1:p.Ile170=
Search 100 bp 5'
Search 100 bp 3'