Canonical Allele Identifier: CA2573154860

Gene: KCNJ2

Linked Data

• ClinVar Variation Id: 1383075
• ClinVar RCV Id: RCV001924499
• dbSNP Id: rs2144377032

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175539_70175553dup , CM000679.2:g.70175539_70175553dup	GRCh38
NC_000017.10:g.68171680_68171694dup , CM000679.1:g.68171680_68171694dup	GRCh37
NC_000017.9:g.65683275_65683289dup	NCBI36
NG_008798.1:g.11005_11019dup , LRG_328:g.11005_11019dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.500_514dup MANE Select	ENSP00000243457.2:p.Ile171_Asp172insValGlyCysIleIle
ENST00000243457.3:c.500_514dup	ENSP00000243457.2:p.Ile171_Asp172insValGlyCysIleIle
ENST00000535240.1:c.500_514dup	ENSP00000441848.1:p.Ile171_Asp172insValGlyCysIleIle
NM_000891.2:c.500_514dup , LRG_328t1:c.500_514dup	NP_000882.1:p.Ile171_Asp172insValGlyCysIleIle
XM_011524779.1:c.500_514dup	XP_011523081.1:p.Ile171_Asp172insValGlyCysIleIle
NM_000891.3:c.500_514dup MANE Select	NP_000882.1:p.Ile171_Asp172insValGlyCysIleIle