Canonical Allele Identifier: CA2580077796

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1783287
• ClinVar RCV Id: RCV002421596 ; RCV003097385

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951106_150951111delinsA , CM000669.2:g.150951106_150951111delinsA	GRCh38
NC_000007.13:g.150648194_150648199delinsA , CM000669.1:g.150648194_150648199delinsA	GRCh37
NC_000007.12:g.150279127_150279132delinsA	NCBI36
NG_008916.1:g.31816_31821delinsT , LRG_288:g.31816_31821delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1253_1258delinsT
ENST00000683359.1:n.79_84delinsT
ENST00000684241.1:n.2788_2793delinsT
ENST00000262186.10:c.1955_1960delinsT MANE Select	ENSP00000262186.5:p.Tyr652LeufsTer?
ENST00000330883.9:c.935_940delinsT	ENSP00000328531.4:p.Tyr312LeufsTer?
ENST00000262186.9:c.1955_1960delinsT	ENSP00000262186.5:p.Tyr652LeufsTer?
ENST00000330883.8:c.935_940delinsT	ENSP00000328531.4:p.Tyr312LeufsTer?
ENST00000430723.4:c.1607_1612delinsT	ENSP00000387657.4:p.Tyr536LeufsTer?
ENST00000461280.1:n.1242_1247delinsT
ENST00000473610.5:n.1587_1592delinsT
ENST00000532957.5:n.2178_2183delinsT
NM_000238.3:c.1955_1960delinsT , LRG_288t1:c.1955_1960delinsT	NP_000229.1:p.Tyr652LeufsTer?
NM_001204798.1:c.935_940delinsT	NP_001191727.1:p.Tyr312LeufsTer?
NM_172056.2:c.1955_1960delinsT , LRG_288t2:c.1955_1960delinsT	NP_742053.1:p.Tyr652LeufsTer?
NM_172057.2:c.935_940delinsT , LRG_288t3:c.935_940delinsT	NP_742054.1:p.Tyr312LeufsTer?
XM_011516185.1:c.1655_1660delinsT	XP_011514487.1:p.Tyr552LeufsTer?
XM_011516186.1:c.1955_1960delinsT	XP_011514488.1:p.Tyr652LeufsTer?
XM_011516185.2:c.1655_1660delinsT	XP_011514487.1:p.Tyr552LeufsTer?
XM_011516186.3:c.1955_1960delinsT	XP_011514488.1:p.Tyr652LeufsTer?
XM_017012195.1:c.1805_1810delinsT	XP_016867684.1:p.Tyr602LeufsTer?
XM_017012196.1:c.1778_1783delinsT	XP_016867685.1:p.Tyr593LeufsTer?
NM_000238.4:c.1955_1960delinsT MANE Select	NP_000229.1:p.Tyr652LeufsTer?
NM_001204798.2:c.935_940delinsT	NP_001191727.1:p.Tyr312LeufsTer?
NM_172057.3:c.935_940delinsT	NP_742054.1:p.Tyr312LeufsTer?