Canonical Allele Identifier: CA2573052838

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1323136
• ClinVar RCV Id: RCV001783500
• dbSNP Id: rs2117003824

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958188_150958203del , CM000669.2:g.150958188_150958203del	GRCh38
NC_000007.13:g.150655276_150655291del , CM000669.1:g.150655276_150655291del	GRCh37
NC_000007.12:g.150286209_150286224del	NCBI36
NG_008916.1:g.24726_24741del , LRG_288:g.24726_24741del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1607_1622del
ENST00000262186.10:c.774_789del MANE Select	ENSP00000262186.5:p.Asp259AlafsTer?
ENST00000262186.9:c.774_789del	ENSP00000262186.5:p.Asp259AlafsTer?
ENST00000430723.4:c.426_441del	ENSP00000387657.4:p.Asp143AlafsTer?
ENST00000532957.5:n.997_1012del
NM_000238.3:c.774_789del , LRG_288t1:c.774_789del	NP_000229.1:p.Asp259AlafsTer?
NM_172056.2:c.774_789del , LRG_288t2:c.774_789del	NP_742053.1:p.Asp259AlafsTer?
XM_011516185.1:c.474_489del	XP_011514487.1:p.Asp159AlafsTer?
XM_011516186.1:c.774_789del	XP_011514488.1:p.Asp259AlafsTer?
XM_011516185.2:c.474_489del	XP_011514487.1:p.Asp159AlafsTer?
XM_011516186.3:c.774_789del	XP_011514488.1:p.Asp259AlafsTer?
XM_017012195.1:c.624_639del	XP_016867684.1:p.Asp209AlafsTer?
XM_017012196.1:c.597_612del	XP_016867685.1:p.Asp200AlafsTer?
NM_000238.4:c.774_789del MANE Select	NP_000229.1:p.Asp259AlafsTer?