Canonical Allele Identifier: CA2695208706

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950374_150950397del , CM000669.2:g.150950374_150950397del	GRCh38
NC_000007.13:g.150647462_150647485del , CM000669.1:g.150647462_150647485del	GRCh37
NC_000007.12:g.150278395_150278418del	NCBI36
NG_008916.1:g.32534_32557del , LRG_288:g.32534_32557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1471_1494del
ENST00000684241.1:n.3006_3029del
ENST00000262186.10:c.2173_2196del MANE Select	ENSP00000262186.5:p.Gln725_Leu732del
ENST00000330883.9:c.1153_1176del	ENSP00000328531.4:p.Gln385_Leu392del
ENST00000262186.9:c.2173_2196del	ENSP00000262186.5:p.Gln725_Leu732del
ENST00000330883.8:c.1153_1176del	ENSP00000328531.4:p.Gln385_Leu392del
ENST00000430723.4:c.1825_1848del	ENSP00000387657.4:p.Gln609_Leu616del
ENST00000461280.1:n.1460_1483del
ENST00000473610.5:n.1805_1828del
ENST00000532957.5:n.2396_2419del
NM_000238.3:c.2173_2196del , LRG_288t1:c.2173_2196del	NP_000229.1:p.Gln725_Leu732del
NM_001204798.1:c.1153_1176del	NP_001191727.1:p.Gln385_Leu392del
NM_172056.2:c.2173_2196del , LRG_288t2:c.2173_2196del	NP_742053.1:p.Gln725_Leu732del
NM_172057.2:c.1153_1176del , LRG_288t3:c.1153_1176del	NP_742054.1:p.Gln385_Leu392del
XM_011516185.1:c.1873_1896del	XP_011514487.1:p.Gln625_Leu632del
XM_011516186.1:c.2173_2196del	XP_011514488.1:p.Gln725_Leu732del
XM_011516185.2:c.1873_1896del	XP_011514487.1:p.Gln625_Leu632del
XM_011516186.3:c.2173_2196del	XP_011514488.1:p.Gln725_Leu732del
XM_017012195.1:c.2023_2046del	XP_016867684.1:p.Gln675_Leu682del
XM_017012196.1:c.1996_2019del	XP_016867685.1:p.Gln666_Leu673del
NM_000238.4:c.2173_2196del MANE Select	NP_000229.1:p.Gln725_Leu732del
NM_001204798.2:c.1153_1176del	NP_001191727.1:p.Gln385_Leu392del
NM_172057.3:c.1153_1176del	NP_742054.1:p.Gln385_Leu392del