Canonical Allele Identifier: CA918162454

Gene: KCNH2

Linked Data

• dbSNP Id: rs1584861352

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955720_150955722del , CM000669.2:g.150955720_150955722del	GRCh38
NC_000007.13:g.150652808_150652810del , CM000669.1:g.150652808_150652810del	GRCh37
NC_000007.12:g.150283741_150283743del	NCBI36
NG_008916.1:g.27205_27207del , LRG_288:g.27205_27207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.100_102del
ENST00000684241.1:n.1961+1569_1961+1571del
ENST00000262186.10:c.1128+1569_1128+1571del MANE Select	ENSP00000262186.5:n.1128+1569_1128+1571del
ENST00000330883.9:c.-219_-217del	ENSP00000328531.4:n.-219_-217del
ENST00000262186.9:c.1128+1569_1128+1571del	ENSP00000262186.5:n.1128+1569_1128+1571del
ENST00000330883.8:c.-219_-217del	ENSP00000328531.4:n.-219_-217del
ENST00000430723.4:c.780+1569_780+1571del	ENSP00000387657.4:n.780+1569_780+1571del
ENST00000461280.1:n.89_91del
ENST00000473610.5:n.107_109del
ENST00000532957.5:n.1351+1569_1351+1571del
NM_000238.3:c.1128+1569_1128+1571del , LRG_288t1:c.1128+1569_1128+1571del	NP_000229.1:n.1128+1569_1128+1571del
NM_001204798.1:c.-219_-217del	NP_001191727.1:n.-219_-217del
NM_172056.2:c.1128+1569_1128+1571del , LRG_288t2:c.1128+1569_1128+1571del	NP_742053.1:n.1128+1569_1128+1571del
NM_172057.2:c.-219_-217del , LRG_288t3:c.-219_-217del	NP_742054.1:n.-219_-217del
XM_011516185.1:c.828+1569_828+1571del	XP_011514487.1:n.828+1569_828+1571del
XM_011516186.1:c.1128+1569_1128+1571del	XP_011514488.1:n.1128+1569_1128+1571del
XM_011516185.2:c.828+1569_828+1571del	XP_011514487.1:n.828+1569_828+1571del
XM_011516186.3:c.1128+1569_1128+1571del	XP_011514488.1:n.1128+1569_1128+1571del
XM_017012195.1:c.978+1569_978+1571del	XP_016867684.1:n.978+1569_978+1571del
XM_017012196.1:c.951+1569_951+1571del	XP_016867685.1:n.951+1569_951+1571del
NM_000238.4:c.1128+1569_1128+1571del MANE Select	NP_000229.1:n.1128+1569_1128+1571del
NM_001204798.2:c.-219_-217del	NP_001191727.1:n.-219_-217del
NM_172057.3:c.-219_-217del	NP_742054.1:n.-219_-217del