Canonical Allele Identifier: CA2579062628

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948519-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948524del , CM000669.2:g.150948524del	GRCh38
NC_000007.13:g.150645612del , CM000669.1:g.150645612del	GRCh37
NC_000007.12:g.150276545del	NCBI36
NG_008916.1:g.34407del , LRG_288:g.34407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3449del
ENST00000262186.10:c.2616del MANE Select	ENSP00000262186.5:p.Gly873AlafsTer5
ENST00000330883.9:c.1596del	ENSP00000328531.4:p.Gly533AlafsTer5
ENST00000262186.9:c.2616del	ENSP00000262186.5:p.Gly873AlafsTer5
ENST00000330883.8:c.1596del	ENSP00000328531.4:p.Gly533AlafsTer5
NM_000238.3:c.2616del , LRG_288t1:c.2616del	NP_000229.1:p.Gly873AlafsTer5
NM_172057.2:c.1596del , LRG_288t3:c.1596del	NP_742054.1:p.Gly533AlafsTer5
XM_011516185.1:c.2316del	XP_011514487.1:p.Gly773AlafsTer5
XM_011516186.1:c.2616del	XP_011514488.1:p.Gly873AlafsTer5
XM_011516185.2:c.2316del	XP_011514487.1:p.Gly773AlafsTer5
XM_011516186.3:c.2616del	XP_011514488.1:p.Gly873AlafsTer5
XM_017012195.1:c.2466del	XP_016867684.1:p.Gly823AlafsTer5
XM_017012196.1:c.2439del	XP_016867685.1:p.Gly814AlafsTer5
NM_000238.4:c.2616del MANE Select	NP_000229.1:p.Gly873AlafsTer5
NM_172057.3:c.1596del	NP_742054.1:p.Gly533AlafsTer5