Canonical Allele Identifier: CA2579063064

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952396T>A , CM000669.2:g.150952396T>A	GRCh38
NC_000007.13:g.150649484T>A , CM000669.1:g.150649484T>A	GRCh37
NC_000007.12:g.150280417T>A	NCBI36
NG_008916.1:g.30531A>T , LRG_288:g.30531A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.855+29A>T
ENST00000684116.1:n.450+29A>T
ENST00000684241.1:n.2390+29A>T
ENST00000262186.10:c.1557+29A>T MANE Select	ENSP00000262186.5:n.1557+29A>T
ENST00000330883.9:c.537+29A>T	ENSP00000328531.4:n.537+29A>T
ENST00000262186.9:c.1557+29A>T	ENSP00000262186.5:n.1557+29A>T
ENST00000330883.8:c.537+29A>T	ENSP00000328531.4:n.537+29A>T
ENST00000430723.4:c.1209+29A>T	ENSP00000387657.4:n.1209+29A>T
ENST00000461280.1:n.844+29A>T
ENST00000473610.5:n.862+29A>T
ENST00000532957.5:n.1780+29A>T
NM_000238.3:c.1557+29A>T , LRG_288t1:c.1557+29A>T	NP_000229.1:n.1557+29A>T
NM_001204798.1:c.537+29A>T	NP_001191727.1:n.537+29A>T
NM_172056.2:c.1557+29A>T , LRG_288t2:c.1557+29A>T	NP_742053.1:n.1557+29A>T
NM_172057.2:c.537+29A>T , LRG_288t3:c.537+29A>T	NP_742054.1:n.537+29A>T
XM_011516185.1:c.1257+29A>T	XP_011514487.1:n.1257+29A>T
XM_011516186.1:c.1557+29A>T	XP_011514488.1:n.1557+29A>T
XM_011516185.2:c.1257+29A>T	XP_011514487.1:n.1257+29A>T
XM_011516186.3:c.1557+29A>T	XP_011514488.1:n.1557+29A>T
XM_017012195.1:c.1407+29A>T	XP_016867684.1:n.1407+29A>T
XM_017012196.1:c.1380+29A>T	XP_016867685.1:n.1380+29A>T
NM_000238.4:c.1557+29A>T MANE Select	NP_000229.1:n.1557+29A>T
NM_001204798.2:c.537+29A>T	NP_001191727.1:n.537+29A>T
NM_172057.3:c.537+29A>T	NP_742054.1:n.537+29A>T