Canonical Allele Identifier: CA1752409956

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951577_150951578delinsAG , CM000669.2:g.150951577_150951578delinsAG	GRCh38
NC_000007.13:g.150648665_150648666delinsAG , CM000669.1:g.150648665_150648666delinsAG	GRCh37
NC_000007.12:g.150279598_150279599delinsAG	NCBI36
NG_008916.1:g.31349_31350delinsCT , LRG_288:g.31349_31350delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1113_1114delinsCT
ENST00000684241.1:n.2648_2649delinsCT
ENST00000262186.10:c.1815_1816delinsCT MANE Select	ENSP00000262186.5:p.Pro605=
ENST00000330883.9:c.795_796delinsCT	ENSP00000328531.4:p.Pro265=
ENST00000262186.9:c.1815_1816delinsCT	ENSP00000262186.5:p.Pro605=
ENST00000330883.8:c.795_796delinsCT	ENSP00000328531.4:p.Pro265=
ENST00000430723.4:c.1467_1468delinsCT	ENSP00000387657.4:p.Pro489=
ENST00000461280.1:n.1102_1103delinsCT
ENST00000473610.5:n.1120_1121delinsCT
ENST00000532957.5:n.2038_2039delinsCT
NM_000238.3:c.1815_1816delinsCT , LRG_288t1:c.1815_1816delinsCT	NP_000229.1:p.Pro605=
NM_001204798.1:c.795_796delinsCT	NP_001191727.1:p.Pro265=
NM_172056.2:c.1815_1816delinsCT , LRG_288t2:c.1815_1816delinsCT	NP_742053.1:p.Pro605=
NM_172057.2:c.795_796delinsCT , LRG_288t3:c.795_796delinsCT	NP_742054.1:p.Pro265=
XM_011516185.1:c.1515_1516delinsCT	XP_011514487.1:p.Pro505=
XM_011516186.1:c.1815_1816delinsCT	XP_011514488.1:p.Pro605=
XM_011516185.2:c.1515_1516delinsCT	XP_011514487.1:p.Pro505=
XM_011516186.3:c.1815_1816delinsCT	XP_011514488.1:p.Pro605=
XM_017012195.1:c.1665_1666delinsCT	XP_016867684.1:p.Pro555=
XM_017012196.1:c.1638_1639delinsCT	XP_016867685.1:p.Pro546=
NM_000238.4:c.1815_1816delinsCT MANE Select	NP_000229.1:p.Pro605=
NM_001204798.2:c.795_796delinsCT	NP_001191727.1:p.Pro265=
NM_172057.3:c.795_796delinsCT	NP_742054.1:p.Pro265=