Canonical Allele Identifier: CA2685600785

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150949124-T-TGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949124_150949125insGC , CM000669.2:g.150949124_150949125insGC	GRCh38
NC_000007.13:g.150646212_150646213insGC , CM000669.1:g.150646212_150646213insGC	GRCh37
NC_000007.12:g.150277145_150277146insGC	NCBI36
NG_008916.1:g.33802_33803insGC , LRG_288:g.33802_33803insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3232-76_3232-75insGC
ENST00000262186.10:c.2399-76_2399-75insGC MANE Select	ENSP00000262186.5:n.2399-76_2399-75insGC
ENST00000330883.9:c.1379-76_1379-75insGC	ENSP00000328531.4:n.1379-76_1379-75insGC
ENST00000262186.9:c.2399-76_2399-75insGC	ENSP00000262186.5:n.2399-76_2399-75insGC
ENST00000330883.8:c.1379-76_1379-75insGC	ENSP00000328531.4:n.1379-76_1379-75insGC
NM_000238.3:c.2399-76_2399-75insGC , LRG_288t1:c.2399-76_2399-75insGC	NP_000229.1:n.2399-76_2399-75insGC
NM_172057.2:c.1379-76_1379-75insGC , LRG_288t3:c.1379-76_1379-75insGC	NP_742054.1:n.1379-76_1379-75insGC
XM_011516185.1:c.2099-76_2099-75insGC	XP_011514487.1:n.2099-76_2099-75insGC
XM_011516186.1:c.2399-76_2399-75insGC	XP_011514488.1:n.2399-76_2399-75insGC
XM_011516185.2:c.2099-76_2099-75insGC	XP_011514487.1:n.2099-76_2099-75insGC
XM_011516186.3:c.2399-76_2399-75insGC	XP_011514488.1:n.2399-76_2399-75insGC
XM_017012195.1:c.2249-76_2249-75insGC	XP_016867684.1:n.2249-76_2249-75insGC
XM_017012196.1:c.2222-76_2222-75insGC	XP_016867685.1:n.2222-76_2222-75insGC
NM_000238.4:c.2399-76_2399-75insGC MANE Select	NP_000229.1:n.2399-76_2399-75insGC
NM_172057.3:c.1379-76_1379-75insGC	NP_742054.1:n.1379-76_1379-75insGC