Canonical Allele Identifier: CA2695208722

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951552_150951553delinsAA , CM000669.2:g.150951552_150951553delinsAA	GRCh38
NC_000007.13:g.150648640_150648641delinsAA , CM000669.1:g.150648640_150648641delinsAA	GRCh37
NC_000007.12:g.150279573_150279574delinsAA	NCBI36
NG_008916.1:g.31374_31375delinsTT , LRG_288:g.31374_31375delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1138_1139delinsTT
ENST00000684241.1:n.2673_2674delinsTT
ENST00000262186.10:c.1840_1841delinsTT MANE Select	ENSP00000262186.5:p.Ala614Leu
ENST00000330883.9:c.820_821delinsTT	ENSP00000328531.4:p.Ala274Leu
ENST00000262186.9:c.1840_1841delinsTT	ENSP00000262186.5:p.Ala614Leu
ENST00000330883.8:c.820_821delinsTT	ENSP00000328531.4:p.Ala274Leu
ENST00000430723.4:c.1492_1493delinsTT	ENSP00000387657.4:p.Ala498Leu
ENST00000461280.1:n.1127_1128delinsTT
ENST00000473610.5:n.1145_1146delinsTT
ENST00000532957.5:n.2063_2064delinsTT
NM_000238.3:c.1840_1841delinsTT , LRG_288t1:c.1840_1841delinsTT	NP_000229.1:p.Ala614Leu
NM_001204798.1:c.820_821delinsTT	NP_001191727.1:p.Ala274Leu
NM_172056.2:c.1840_1841delinsTT , LRG_288t2:c.1840_1841delinsTT	NP_742053.1:p.Ala614Leu
NM_172057.2:c.820_821delinsTT , LRG_288t3:c.820_821delinsTT	NP_742054.1:p.Ala274Leu
XM_011516185.1:c.1540_1541delinsTT	XP_011514487.1:p.Ala514Leu
XM_011516186.1:c.1840_1841delinsTT	XP_011514488.1:p.Ala614Leu
XM_011516185.2:c.1540_1541delinsTT	XP_011514487.1:p.Ala514Leu
XM_011516186.3:c.1840_1841delinsTT	XP_011514488.1:p.Ala614Leu
XM_017012195.1:c.1690_1691delinsTT	XP_016867684.1:p.Ala564Leu
XM_017012196.1:c.1663_1664delinsTT	XP_016867685.1:p.Ala555Leu
NM_000238.4:c.1840_1841delinsTT MANE Select	NP_000229.1:p.Ala614Leu
NM_001204798.2:c.820_821delinsTT	NP_001191727.1:p.Ala274Leu
NM_172057.3:c.820_821delinsTT	NP_742054.1:p.Ala274Leu