Canonical Allele Identifier: CA2695208827

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948980dup , CM000669.2:g.150948980dup	GRCh38
NC_000007.13:g.150646068dup , CM000669.1:g.150646068dup	GRCh37
NC_000007.12:g.150277001dup	NCBI36
NG_008916.1:g.33949dup , LRG_288:g.33949dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3303dup
ENST00000262186.10:c.2470dup MANE Select	ENSP00000262186.5:p.Ala824GlyfsTer6
ENST00000330883.9:c.1450dup	ENSP00000328531.4:p.Ala484GlyfsTer6
ENST00000262186.9:c.2470dup	ENSP00000262186.5:p.Ala824GlyfsTer6
ENST00000330883.8:c.1450dup	ENSP00000328531.4:p.Ala484GlyfsTer6
NM_000238.3:c.2470dup , LRG_288t1:c.2470dup	NP_000229.1:p.Ala824GlyfsTer6
NM_172057.2:c.1450dup , LRG_288t3:c.1450dup	NP_742054.1:p.Ala484GlyfsTer6
XM_011516185.1:c.2170dup	XP_011514487.1:p.Ala724GlyfsTer6
XM_011516186.1:c.2470dup	XP_011514488.1:p.Ala824GlyfsTer6
XM_011516185.2:c.2170dup	XP_011514487.1:p.Ala724GlyfsTer6
XM_011516186.3:c.2470dup	XP_011514488.1:p.Ala824GlyfsTer6
XM_017012195.1:c.2320dup	XP_016867684.1:p.Ala774GlyfsTer6
XM_017012196.1:c.2293dup	XP_016867685.1:p.Ala765GlyfsTer6
NM_000238.4:c.2470dup MANE Select	NP_000229.1:p.Ala824GlyfsTer6
NM_172057.3:c.1450dup	NP_742054.1:p.Ala484GlyfsTer6