Canonical Allele Identifier: CA2778425839

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950479_150950485del , CM000669.2:g.150950479_150950485del	GRCh38
NC_000007.13:g.150647567_150647573del , CM000669.1:g.150647567_150647573del	GRCh37
NC_000007.12:g.150278500_150278506del	NCBI36
NG_008916.1:g.32443_32449del , LRG_288:g.32443_32449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1444-64_1444-58del
ENST00000684241.1:n.2979-64_2979-58del
ENST00000262186.10:c.2146-64_2146-58del MANE Select	ENSP00000262186.5:n.2146-64_2146-58del
ENST00000330883.9:c.1126-64_1126-58del	ENSP00000328531.4:n.1126-64_1126-58del
ENST00000262186.9:c.2146-64_2146-58del	ENSP00000262186.5:n.2146-64_2146-58del
ENST00000330883.8:c.1126-64_1126-58del	ENSP00000328531.4:n.1126-64_1126-58del
ENST00000430723.4:c.1798-64_1798-58del	ENSP00000387657.4:n.1798-64_1798-58del
ENST00000461280.1:n.1433-64_1433-58del
ENST00000473610.5:n.1778-64_1778-58del
ENST00000532957.5:n.2369-64_2369-58del
NM_000238.3:c.2146-64_2146-58del , LRG_288t1:c.2146-64_2146-58del	NP_000229.1:n.2146-64_2146-58del
NM_001204798.1:c.1126-64_1126-58del	NP_001191727.1:n.1126-64_1126-58del
NM_172056.2:c.2146-64_2146-58del , LRG_288t2:c.2146-64_2146-58del	NP_742053.1:n.2146-64_2146-58del
NM_172057.2:c.1126-64_1126-58del , LRG_288t3:c.1126-64_1126-58del	NP_742054.1:n.1126-64_1126-58del
XM_011516185.1:c.1846-64_1846-58del	XP_011514487.1:n.1846-64_1846-58del
XM_011516186.1:c.2146-64_2146-58del	XP_011514488.1:n.2146-64_2146-58del
XM_011516185.2:c.1846-64_1846-58del	XP_011514487.1:n.1846-64_1846-58del
XM_011516186.3:c.2146-64_2146-58del	XP_011514488.1:n.2146-64_2146-58del
XM_017012195.1:c.1996-64_1996-58del	XP_016867684.1:n.1996-64_1996-58del
XM_017012196.1:c.1969-64_1969-58del	XP_016867685.1:n.1969-64_1969-58del
NM_000238.4:c.2146-64_2146-58del MANE Select	NP_000229.1:n.2146-64_2146-58del
NM_001204798.2:c.1126-64_1126-58del	NP_001191727.1:n.1126-64_1126-58del
NM_172057.3:c.1126-64_1126-58del	NP_742054.1:n.1126-64_1126-58del