Canonical Allele Identifier: CA501700555
Gene: KCNJ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.68172053C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175912C>T , CM000679.2:g.70175912C>T GRCh38
NC_000017.10:g.68172053C>T , CM000679.1:g.68172053C>T GRCh37
NC_000017.9:g.65683648C>T NCBI36
NG_008798.1:g.11378C>T , LRG_328:g.11378C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.873C>T MANE Select ENSP00000243457.2:p.Asp291=
ENST00000243457.3:c.873C>T ENSP00000243457.2:p.Asp291=
ENST00000535240.1:c.873C>T ENSP00000441848.1:p.Asp291=
NM_000891.2:c.873C>T , LRG_328t1:c.873C>T NP_000882.1:p.Asp291=
XM_011524779.1:c.873C>T XP_011523081.1:p.Asp291=
NM_000891.3:c.873C>T MANE Select NP_000882.1:p.Asp291=