Canonical Allele Identifier: CA2695208698

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950193_150950194del , CM000669.2:g.150950193_150950194del	GRCh38
NC_000007.13:g.150647281_150647282del , CM000669.1:g.150647281_150647282del	GRCh37
NC_000007.12:g.150278214_150278215del	NCBI36
NG_008916.1:g.32735_32736del , LRG_288:g.32735_32736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1672_1673del
ENST00000684241.1:n.3207_3208del
ENST00000262186.10:c.2374_2375del MANE Select	ENSP00000262186.5:p.Gly792ArgfsTer11
ENST00000330883.9:c.1354_1355del	ENSP00000328531.4:p.Gly452ArgfsTer11
ENST00000262186.9:c.2374_2375del	ENSP00000262186.5:p.Gly792ArgfsTer11
ENST00000330883.8:c.1354_1355del	ENSP00000328531.4:p.Gly452ArgfsTer11
ENST00000430723.4:c.2026_2027del	ENSP00000387657.4:p.Gly676ArgfsTer?
ENST00000461280.1:n.1661_1662del
ENST00000473610.5:n.2006_2007del
ENST00000532957.5:n.2597_2598del
NM_000238.3:c.2374_2375del , LRG_288t1:c.2374_2375del	NP_000229.1:p.Gly792ArgfsTer11
NM_001204798.1:c.1354_1355del	NP_001191727.1:p.Gly452ArgfsTer?
NM_172056.2:c.2374_2375del , LRG_288t2:c.2374_2375del	NP_742053.1:p.Gly792ArgfsTer?
NM_172057.2:c.1354_1355del , LRG_288t3:c.1354_1355del	NP_742054.1:p.Gly452ArgfsTer11
XM_011516185.1:c.2074_2075del	XP_011514487.1:p.Gly692ArgfsTer11
XM_011516186.1:c.2374_2375del	XP_011514488.1:p.Gly792ArgfsTer11
XM_011516185.2:c.2074_2075del	XP_011514487.1:p.Gly692ArgfsTer11
XM_011516186.3:c.2374_2375del	XP_011514488.1:p.Gly792ArgfsTer11
XM_017012195.1:c.2224_2225del	XP_016867684.1:p.Gly742ArgfsTer11
XM_017012196.1:c.2197_2198del	XP_016867685.1:p.Gly733ArgfsTer11
NM_000238.4:c.2374_2375del MANE Select	NP_000229.1:p.Gly792ArgfsTer11
NM_001204798.2:c.1354_1355del	NP_001191727.1:p.Gly452ArgfsTer?
NM_172057.3:c.1354_1355del	NP_742054.1:p.Gly452ArgfsTer11