Canonical Allele Identifier: CA2580077795

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2125899
• ClinVar RCV Id: RCV003049806

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951047_150951050del , CM000669.2:g.150951047_150951050del	GRCh38
NC_000007.13:g.150648135_150648138del , CM000669.1:g.150648135_150648138del	GRCh37
NC_000007.12:g.150279068_150279071del	NCBI36
NG_008916.1:g.31878_31881del , LRG_288:g.31878_31881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1315_1318del
ENST00000683359.1:n.141_144del
ENST00000684241.1:n.2850_2853del
ENST00000262186.10:c.2017_2020del MANE Select	ENSP00000262186.5:p.Tyr673ThrfsTer?
ENST00000330883.9:c.997_1000del	ENSP00000328531.4:p.Tyr333ThrfsTer?
ENST00000262186.9:c.2017_2020del	ENSP00000262186.5:p.Tyr673ThrfsTer?
ENST00000330883.8:c.997_1000del	ENSP00000328531.4:p.Tyr333ThrfsTer?
ENST00000430723.4:c.1669_1672del	ENSP00000387657.4:p.Tyr557ThrfsTer?
ENST00000461280.1:n.1304_1307del
ENST00000473610.5:n.1649_1652del
ENST00000532957.5:n.2240_2243del
NM_000238.3:c.2017_2020del , LRG_288t1:c.2017_2020del	NP_000229.1:p.Tyr673ThrfsTer?
NM_001204798.1:c.997_1000del	NP_001191727.1:p.Tyr333ThrfsTer?
NM_172056.2:c.2017_2020del , LRG_288t2:c.2017_2020del	NP_742053.1:p.Tyr673ThrfsTer?
NM_172057.2:c.997_1000del , LRG_288t3:c.997_1000del	NP_742054.1:p.Tyr333ThrfsTer?
XM_011516185.1:c.1717_1720del	XP_011514487.1:p.Tyr573ThrfsTer?
XM_011516186.1:c.2017_2020del	XP_011514488.1:p.Tyr673ThrfsTer?
XM_011516185.2:c.1717_1720del	XP_011514487.1:p.Tyr573ThrfsTer?
XM_011516186.3:c.2017_2020del	XP_011514488.1:p.Tyr673ThrfsTer?
XM_017012195.1:c.1867_1870del	XP_016867684.1:p.Tyr623ThrfsTer?
XM_017012196.1:c.1840_1843del	XP_016867685.1:p.Tyr614ThrfsTer?
NM_000238.4:c.2017_2020del MANE Select	NP_000229.1:p.Tyr673ThrfsTer?
NM_001204798.2:c.997_1000del	NP_001191727.1:p.Tyr333ThrfsTer?
NM_172057.3:c.997_1000del	NP_742054.1:p.Tyr333ThrfsTer?