Canonical Allele Identifier: CA2582341955

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2584422
• ClinVar RCV Id: RCV003335862
• gnomAD v4: 7-150958228-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958231del , CM000669.2:g.150958231del	GRCh38
NC_000007.13:g.150655319del , CM000669.1:g.150655319del	GRCh37
NC_000007.12:g.150286252del	NCBI36
NG_008916.1:g.24698del , LRG_288:g.24698del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1579del
ENST00000262186.10:c.746del MANE Select	ENSP00000262186.5:p.Pro249HisfsTer?
ENST00000262186.9:c.746del	ENSP00000262186.5:p.Pro249HisfsTer?
ENST00000430723.4:c.398del	ENSP00000387657.4:p.Pro133HisfsTer?
ENST00000532957.5:n.969del
NM_000238.3:c.746del , LRG_288t1:c.746del	NP_000229.1:p.Pro249HisfsTer?
NM_172056.2:c.746del , LRG_288t2:c.746del	NP_742053.1:p.Pro249HisfsTer?
XM_011516185.1:c.446del	XP_011514487.1:p.Pro149HisfsTer?
XM_011516186.1:c.746del	XP_011514488.1:p.Pro249HisfsTer?
XM_011516185.2:c.446del	XP_011514487.1:p.Pro149HisfsTer?
XM_011516186.3:c.746del	XP_011514488.1:p.Pro249HisfsTer?
XM_017012195.1:c.596del	XP_016867684.1:p.Pro199HisfsTer?
XM_017012196.1:c.569del	XP_016867685.1:p.Pro190HisfsTer?
NM_000238.4:c.746del MANE Select	NP_000229.1:p.Pro249HisfsTer?