Canonical Allele Identifier: CA2685606957

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977799-C-CCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977800_150977801insCAC , CM000669.2:g.150977800_150977801insCAC	GRCh38
NC_000007.13:g.150674888_150674889insCAC , CM000669.1:g.150674888_150674889insCAC	GRCh37
NC_000007.12:g.150305821_150305822insCAC	NCBI36
NG_008916.1:g.5127_5128insTGG , LRG_288:g.5127_5128insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+38_76+39insTGG MANE Select	ENSP00000262186.5:n.76+38_76+39insTGG
ENST00000262186.9:c.76+38_76+39insTGG	ENSP00000262186.5:n.76+38_76+39insTGG
ENST00000430723.4:c.-102+38_-102+39insTGG	ENSP00000387657.4:n.-102+38_-102+39insTGG
ENST00000532957.5:n.299+38_299+39insTGG
NM_000238.3:c.76+38_76+39insTGG , LRG_288t1:c.76+38_76+39insTGG	NP_000229.1:n.76+38_76+39insTGG
NM_172056.2:c.76+38_76+39insTGG , LRG_288t2:c.76+38_76+39insTGG	NP_742053.1:n.76+38_76+39insTGG
XM_011516186.1:c.76+38_76+39insTGG	XP_011514488.1:n.76+38_76+39insTGG
XM_011516186.3:c.76+38_76+39insTGG	XP_011514488.1:n.76+38_76+39insTGG
NM_000238.4:c.76+38_76+39insTGG MANE Select	NP_000229.1:n.76+38_76+39insTGG