Canonical Allele Identifier: CA369857397

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950952C>T , CM000669.2:g.150950952C>T	GRCh38
NC_000007.13:g.150648040C>T , CM000669.1:g.150648040C>T	GRCh37
NC_000007.12:g.150278973C>T	NCBI36
NG_008916.1:g.31975G>A , LRG_288:g.31975G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2114G>A MANE Select	NP_000229.1:p.Trp705Ter
ENST00000262186.10:c.2114G>A MANE Select	ENSP00000262186.5:p.Trp705Ter
NM_000238.3:c.2114G>A , LRG_288t1:c.2114G>A	NP_000229.1:p.Trp705Ter
NM_001204798.1:c.1094G>A	NP_001191727.1:p.Trp365Ter
NM_001204798.2:c.1094G>A	NP_001191727.1:p.Trp365Ter
NM_172056.2:c.2114G>A , LRG_288t2:c.2114G>A	NP_742053.1:p.Trp705Ter
NM_172057.2:c.1094G>A , LRG_288t3:c.1094G>A	NP_742054.1:p.Trp365Ter
NM_172057.3:c.1094G>A	NP_742054.1:p.Trp365Ter
ENST00000262186.9:c.2114G>A	ENSP00000262186.5:p.Trp705Ter
ENST00000330883.8:c.1094G>A	ENSP00000328531.4:p.Trp365Ter
ENST00000330883.9:c.1094G>A	ENSP00000328531.4:p.Trp365Ter
ENST00000430723.4:c.1766G>A	ENSP00000387657.4:p.Trp589Ter
ENST00000461280.1:n.1401G>A
ENST00000461280.2:n.1412G>A
ENST00000473610.5:n.1746G>A
ENST00000532957.5:n.2337G>A
ENST00000683359.1:n.238G>A
ENST00000684241.1:n.2947G>A
XM_011516185.1:c.1814G>A	XP_011514487.1:p.Trp605Ter
XM_011516185.2:c.1814G>A	XP_011514487.1:p.Trp605Ter
XM_011516186.1:c.2114G>A	XP_011514488.1:p.Trp705Ter
XM_011516186.3:c.2114G>A	XP_011514488.1:p.Trp705Ter
XM_017012195.1:c.1964G>A	XP_016867684.1:p.Trp655Ter
XM_017012196.1:c.1937G>A	XP_016867685.1:p.Trp646Ter