Canonical Allele Identifier: CA2838499809

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950311dup , CM000669.2:g.150950311dup	GRCh38
NC_000007.13:g.150647399dup , CM000669.1:g.150647399dup	GRCh37
NC_000007.12:g.150278332dup	NCBI36
NG_008916.1:g.32618dup , LRG_288:g.32618dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1555dup
ENST00000684241.1:n.3090dup
ENST00000262186.10:c.2257dup MANE Select	ENSP00000262186.5:p.Ala753GlyfsTer?
ENST00000330883.9:c.1237dup	ENSP00000328531.4:p.Ala413GlyfsTer?
ENST00000262186.9:c.2257dup	ENSP00000262186.5:p.Ala753GlyfsTer?
ENST00000330883.8:c.1237dup	ENSP00000328531.4:p.Ala413GlyfsTer?
ENST00000430723.4:c.1909dup	ENSP00000387657.4:p.Ala637GlyfsTer?
ENST00000461280.1:n.1544dup
ENST00000473610.5:n.1889dup
ENST00000532957.5:n.2480dup
NM_000238.3:c.2257dup , LRG_288t1:c.2257dup	NP_000229.1:p.Ala753GlyfsTer?
NM_001204798.1:c.1237dup	NP_001191727.1:p.Ala413GlyfsTer?
NM_172056.2:c.2257dup , LRG_288t2:c.2257dup	NP_742053.1:p.Ala753GlyfsTer?
NM_172057.2:c.1237dup , LRG_288t3:c.1237dup	NP_742054.1:p.Ala413GlyfsTer?
XM_011516185.1:c.1957dup	XP_011514487.1:p.Ala653GlyfsTer?
XM_011516186.1:c.2257dup	XP_011514488.1:p.Ala753GlyfsTer?
XM_011516185.2:c.1957dup	XP_011514487.1:p.Ala653GlyfsTer?
XM_011516186.3:c.2257dup	XP_011514488.1:p.Ala753GlyfsTer?
XM_017012195.1:c.2107dup	XP_016867684.1:p.Ala703GlyfsTer?
XM_017012196.1:c.2080dup	XP_016867685.1:p.Ala694GlyfsTer?
NM_000238.4:c.2257dup MANE Select	NP_000229.1:p.Ala753GlyfsTer?
NM_001204798.2:c.1237dup	NP_001191727.1:p.Ala413GlyfsTer?
NM_172057.3:c.1237dup	NP_742054.1:p.Ala413GlyfsTer?