Canonical Allele Identifier: CA2573332428

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951463dup , CM000669.2:g.150951463dup	GRCh38
NC_000007.13:g.150648551dup , CM000669.1:g.150648551dup	GRCh37
NC_000007.12:g.150279484dup	NCBI36
NG_008916.1:g.31464dup , LRG_288:g.31464dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1228dup
ENST00000683359.1:n.54dup
ENST00000684241.1:n.2763dup
ENST00000262186.10:c.1930dup MANE Select	ENSP00000262186.5:p.Val644GlyfsTer11
ENST00000330883.9:c.910dup	ENSP00000328531.4:p.Val304GlyfsTer11
ENST00000262186.9:c.1930dup	ENSP00000262186.5:p.Val644GlyfsTer11
ENST00000330883.8:c.910dup	ENSP00000328531.4:p.Val304GlyfsTer11
ENST00000430723.4:c.1582dup	ENSP00000387657.4:p.Val528GlyfsTer11
ENST00000461280.1:n.1217dup
ENST00000473610.5:n.1235dup
ENST00000532957.5:n.2153dup
NM_000238.3:c.1930dup , LRG_288t1:c.1930dup	NP_000229.1:p.Val644GlyfsTer11
NM_001204798.1:c.910dup	NP_001191727.1:p.Val304GlyfsTer11
NM_172056.2:c.1930dup , LRG_288t2:c.1930dup	NP_742053.1:p.Val644GlyfsTer11
NM_172057.2:c.910dup , LRG_288t3:c.910dup	NP_742054.1:p.Val304GlyfsTer11
XM_011516185.1:c.1630dup	XP_011514487.1:p.Val544GlyfsTer11
XM_011516186.1:c.1930dup	XP_011514488.1:p.Val644GlyfsTer11
XM_011516185.2:c.1630dup	XP_011514487.1:p.Val544GlyfsTer11
XM_011516186.3:c.1930dup	XP_011514488.1:p.Val644GlyfsTer11
XM_017012195.1:c.1780dup	XP_016867684.1:p.Val594GlyfsTer11
XM_017012196.1:c.1753dup	XP_016867685.1:p.Val585GlyfsTer11
NM_000238.4:c.1930dup MANE Select	NP_000229.1:p.Val644GlyfsTer11
NM_001204798.2:c.910dup	NP_001191727.1:p.Val304GlyfsTer11
NM_172057.3:c.910dup	NP_742054.1:p.Val304GlyfsTer11