Canonical Allele Identifier: CA2685602188

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947925-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947926_150947927del , CM000669.2:g.150947926_150947927del	GRCh38
NC_000007.13:g.150645014_150645015del , CM000669.1:g.150645014_150645015del	GRCh37
NC_000007.12:g.150275947_150275948del	NCBI36
NG_008916.1:g.35000_35001del , LRG_288:g.35000_35001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-49_3526-48del
ENST00000262186.10:c.2693-49_2693-48del MANE Select	ENSP00000262186.5:n.2693-49_2693-48del
ENST00000330883.9:c.1673-49_1673-48del	ENSP00000328531.4:n.1673-49_1673-48del
ENST00000262186.9:c.2693-49_2693-48del	ENSP00000262186.5:n.2693-49_2693-48del
ENST00000330883.8:c.1673-49_1673-48del	ENSP00000328531.4:n.1673-49_1673-48del
NM_000238.3:c.2693-49_2693-48del , LRG_288t1:c.2693-49_2693-48del	NP_000229.1:n.2693-49_2693-48del
NM_172057.2:c.1673-49_1673-48del , LRG_288t3:c.1673-49_1673-48del	NP_742054.1:n.1673-49_1673-48del
XM_011516185.1:c.2393-49_2393-48del	XP_011514487.1:n.2393-49_2393-48del
XM_011516186.1:c.2693-236_2693-235del	XP_011514488.1:n.2693-236_2693-235del
XM_011516185.2:c.2393-49_2393-48del	XP_011514487.1:n.2393-49_2393-48del
XM_011516186.3:c.2693-236_2693-235del	XP_011514488.1:n.2693-236_2693-235del
XM_017012195.1:c.2543-49_2543-48del	XP_016867684.1:n.2543-49_2543-48del
XM_017012196.1:c.2516-49_2516-48del	XP_016867685.1:n.2516-49_2516-48del
NM_000238.4:c.2693-49_2693-48del MANE Select	NP_000229.1:n.2693-49_2693-48del
NM_172057.3:c.1673-49_1673-48del	NP_742054.1:n.1673-49_1673-48del