Canonical Allele Identifier: CA918162456

Gene: KCNH2

Linked Data

• dbSNP Id: rs1584861407

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955739_150955748del , CM000669.2:g.150955739_150955748del	GRCh38
NC_000007.13:g.150652827_150652836del , CM000669.1:g.150652827_150652836del	GRCh37
NC_000007.12:g.150283760_150283769del	NCBI36
NG_008916.1:g.27179_27188del , LRG_288:g.27179_27188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.74_83del
ENST00000684241.1:n.1961+1543_1961+1552del
ENST00000262186.10:c.1128+1543_1128+1552del MANE Select	ENSP00000262186.5:n.1128+1543_1128+1552del
ENST00000330883.9:c.-245_-236del	ENSP00000328531.4:n.-245_-236del
ENST00000262186.9:c.1128+1543_1128+1552del	ENSP00000262186.5:n.1128+1543_1128+1552del
ENST00000330883.8:c.-245_-236del	ENSP00000328531.4:n.-245_-236del
ENST00000430723.4:c.780+1543_780+1552del	ENSP00000387657.4:n.780+1543_780+1552del
ENST00000461280.1:n.63_72del
ENST00000473610.5:n.81_90del
ENST00000532957.5:n.1351+1543_1351+1552del
NM_000238.3:c.1128+1543_1128+1552del , LRG_288t1:c.1128+1543_1128+1552del	NP_000229.1:n.1128+1543_1128+1552del
NM_001204798.1:c.-245_-236del	NP_001191727.1:n.-245_-236del
NM_172056.2:c.1128+1543_1128+1552del , LRG_288t2:c.1128+1543_1128+1552del	NP_742053.1:n.1128+1543_1128+1552del
NM_172057.2:c.-245_-236del , LRG_288t3:c.-245_-236del	NP_742054.1:n.-245_-236del
XM_011516185.1:c.828+1543_828+1552del	XP_011514487.1:n.828+1543_828+1552del
XM_011516186.1:c.1128+1543_1128+1552del	XP_011514488.1:n.1128+1543_1128+1552del
XM_011516185.2:c.828+1543_828+1552del	XP_011514487.1:n.828+1543_828+1552del
XM_011516186.3:c.1128+1543_1128+1552del	XP_011514488.1:n.1128+1543_1128+1552del
XM_017012195.1:c.978+1543_978+1552del	XP_016867684.1:n.978+1543_978+1552del
XM_017012196.1:c.951+1543_951+1552del	XP_016867685.1:n.951+1543_951+1552del
NM_000238.4:c.1128+1543_1128+1552del MANE Select	NP_000229.1:n.1128+1543_1128+1552del
NM_001204798.2:c.-245_-236del	NP_001191727.1:n.-245_-236del
NM_172057.3:c.-245_-236del	NP_742054.1:n.-245_-236del