Canonical Allele Identifier: CA2840112016

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951439C>A , CM000669.2:g.150951439C>A	GRCh38
NC_000007.13:g.150648527C>A , CM000669.1:g.150648527C>A	GRCh37
NC_000007.12:g.150279460C>A	NCBI36
NG_008916.1:g.31488G>T , LRG_288:g.31488G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1243+9G>T
ENST00000683359.1:n.69+9G>T
ENST00000684241.1:n.2778+9G>T
ENST00000262186.10:c.1945+9G>T MANE Select	ENSP00000262186.5:n.1945+9G>T
ENST00000330883.9:c.925+9G>T	ENSP00000328531.4:n.925+9G>T
ENST00000262186.9:c.1945+9G>T	ENSP00000262186.5:n.1945+9G>T
ENST00000330883.8:c.925+9G>T	ENSP00000328531.4:n.925+9G>T
ENST00000430723.4:c.1597+9G>T	ENSP00000387657.4:n.1597+9G>T
ENST00000461280.1:n.1232+9G>T
ENST00000473610.5:n.1259G>T
ENST00000532957.5:n.2168+9G>T
NM_000238.3:c.1945+9G>T , LRG_288t1:c.1945+9G>T	NP_000229.1:n.1945+9G>T
NM_001204798.1:c.925+9G>T	NP_001191727.1:n.925+9G>T
NM_172056.2:c.1945+9G>T , LRG_288t2:c.1945+9G>T	NP_742053.1:n.1945+9G>T
NM_172057.2:c.925+9G>T , LRG_288t3:c.925+9G>T	NP_742054.1:n.925+9G>T
XM_011516185.1:c.1645+9G>T	XP_011514487.1:n.1645+9G>T
XM_011516186.1:c.1945+9G>T	XP_011514488.1:n.1945+9G>T
XM_011516185.2:c.1645+9G>T	XP_011514487.1:n.1645+9G>T
XM_011516186.3:c.1945+9G>T	XP_011514488.1:n.1945+9G>T
XM_017012195.1:c.1795+9G>T	XP_016867684.1:n.1795+9G>T
XM_017012196.1:c.1768+9G>T	XP_016867685.1:n.1768+9G>T
NM_000238.4:c.1945+9G>T MANE Select	NP_000229.1:n.1945+9G>T
NM_001204798.2:c.925+9G>T	NP_001191727.1:n.925+9G>T
NM_172057.3:c.925+9G>T	NP_742054.1:n.925+9G>T