Canonical Allele Identifier: CA2695208747

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952792_150952793del , CM000669.2:g.150952792_150952793del	GRCh38
NC_000007.13:g.150649880_150649881del , CM000669.1:g.150649880_150649881del	GRCh37
NC_000007.12:g.150280813_150280814del	NCBI36
NG_008916.1:g.30135_30136del , LRG_288:g.30135_30136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.488_489del
ENST00000684116.1:n.83_84del
ENST00000684241.1:n.2023_2024del
ENST00000262186.10:c.1190_1191del MANE Select	ENSP00000262186.5:p.Arg397LeufsTer?
ENST00000330883.9:c.170_171del	ENSP00000328531.4:p.Arg57LeufsTer?
ENST00000262186.9:c.1190_1191del	ENSP00000262186.5:p.Arg397LeufsTer?
ENST00000330883.8:c.170_171del	ENSP00000328531.4:p.Arg57LeufsTer?
ENST00000430723.4:c.842_843del	ENSP00000387657.4:p.Arg281LeufsTer?
ENST00000461280.1:n.477_478del
ENST00000473610.5:n.495_496del
ENST00000532957.5:n.1413_1414del
NM_000238.3:c.1190_1191del , LRG_288t1:c.1190_1191del	NP_000229.1:p.Arg397LeufsTer?
NM_001204798.1:c.170_171del	NP_001191727.1:p.Arg57LeufsTer?
NM_172056.2:c.1190_1191del , LRG_288t2:c.1190_1191del	NP_742053.1:p.Arg397LeufsTer?
NM_172057.2:c.170_171del , LRG_288t3:c.170_171del	NP_742054.1:p.Arg57LeufsTer?
XM_011516185.1:c.890_891del	XP_011514487.1:p.Arg297LeufsTer?
XM_011516186.1:c.1190_1191del	XP_011514488.1:p.Arg397LeufsTer?
XM_011516185.2:c.890_891del	XP_011514487.1:p.Arg297LeufsTer?
XM_011516186.3:c.1190_1191del	XP_011514488.1:p.Arg397LeufsTer?
XM_017012195.1:c.1040_1041del	XP_016867684.1:p.Arg347LeufsTer?
XM_017012196.1:c.1013_1014del	XP_016867685.1:p.Arg338LeufsTer?
NM_000238.4:c.1190_1191del MANE Select	NP_000229.1:p.Arg397LeufsTer?
NM_001204798.2:c.170_171del	NP_001191727.1:p.Arg57LeufsTer?
NM_172057.3:c.170_171del	NP_742054.1:p.Arg57LeufsTer?