Canonical Allele Identifier: CA2685606833

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977791-G-GGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977791_150977792insGCC , CM000669.2:g.150977791_150977792insGCC	GRCh38
NC_000007.13:g.150674879_150674880insGCC , CM000669.1:g.150674879_150674880insGCC	GRCh37
NC_000007.12:g.150305812_150305813insGCC	NCBI36
NG_008916.1:g.5135_5136insGGC , LRG_288:g.5135_5136insGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+46_76+47insGGC MANE Select	ENSP00000262186.5:n.76+46_76+47insGGC
ENST00000262186.9:c.76+46_76+47insGGC	ENSP00000262186.5:n.76+46_76+47insGGC
ENST00000430723.4:c.-102+46_-102+47insGGC	ENSP00000387657.4:n.-102+46_-102+47insGGC
ENST00000532957.5:n.299+46_299+47insGGC
NM_000238.3:c.76+46_76+47insGGC , LRG_288t1:c.76+46_76+47insGGC	NP_000229.1:n.76+46_76+47insGGC
NM_172056.2:c.76+46_76+47insGGC , LRG_288t2:c.76+46_76+47insGGC	NP_742053.1:n.76+46_76+47insGGC
XM_011516186.1:c.76+46_76+47insGGC	XP_011514488.1:n.76+46_76+47insGGC
XM_011516186.3:c.76+46_76+47insGGC	XP_011514488.1:n.76+46_76+47insGGC
NM_000238.4:c.76+46_76+47insGGC MANE Select	NP_000229.1:n.76+46_76+47insGGC