Canonical Allele Identifier: CA2580077798

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2032030
• ClinVar RCV Id: RCV002876682

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951349_150951676del , CM000669.2:g.150951349_150951676del	GRCh38
NC_000007.13:g.150648437_150648764del , CM000669.1:g.150648437_150648764del	GRCh37
NC_000007.12:g.150279370_150279697del	NCBI36
NG_008916.1:g.31254_31581del , LRG_288:g.31254_31581del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1018_1243+102del
ENST00000684241.1:n.2553_2778+102del
ENST00000262186.10:c.1720_1945+102del
ENST00000330883.9:c.700_925+102del
ENST00000262186.9:c.1720_1945+102del
ENST00000330883.8:c.700_925+102del
ENST00000430723.4:c.1372_1597+102del
ENST00000461280.1:n.1007_1232+102del
ENST00000473610.5:n.1025_1352del
ENST00000532957.5:n.1943_2168+102del
NM_000238.3:c.1720_1945+102del , LRG_288t1:c.1720_1945+102del
NM_001204798.1:c.700_925+102del
NM_172056.2:c.1720_1945+102del , LRG_288t2:c.1720_1945+102del
NM_172057.2:c.700_925+102del , LRG_288t3:c.700_925+102del
XM_011516185.1:c.1420_1645+102del
XM_011516186.1:c.1720_1945+102del
XM_011516185.2:c.1420_1645+102del
XM_011516186.3:c.1720_1945+102del
XM_017012195.1:c.1570_1795+102del
XM_017012196.1:c.1543_1768+102del
NM_000238.4:c.1720_1945+102del
NM_001204798.2:c.700_925+102del
NM_172057.3:c.700_925+102del