Canonical Allele Identifier: CA2695208808

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947842_150947864del , CM000669.2:g.150947842_150947864del	GRCh38
NC_000007.13:g.150644930_150644952del , CM000669.1:g.150644930_150644952del	GRCh37
NC_000007.12:g.150275863_150275885del	NCBI36
NG_008916.1:g.35066_35088del , LRG_288:g.35066_35088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3543_3565del
ENST00000262186.10:c.2710_2732del MANE Select	ENSP00000262186.5:p.Glu904ProfsTer8
ENST00000330883.9:c.1690_1712del	ENSP00000328531.4:p.Glu564ProfsTer8
ENST00000262186.9:c.2710_2732del	ENSP00000262186.5:p.Glu904ProfsTer8
ENST00000330883.8:c.1690_1712del	ENSP00000328531.4:p.Glu564ProfsTer8
NM_000238.3:c.2710_2732del , LRG_288t1:c.2710_2732del	NP_000229.1:p.Glu904ProfsTer8
NM_172057.2:c.1690_1712del , LRG_288t3:c.1690_1712del	NP_742054.1:p.Glu564ProfsTer8
XM_011516185.1:c.2410_2432del	XP_011514487.1:p.Glu804ProfsTer8
XM_011516186.1:c.2693-170_2693-148del	XP_011514488.1:n.2693-170_2693-148del
XM_011516185.2:c.2410_2432del	XP_011514487.1:p.Glu804ProfsTer8
XM_011516186.3:c.2693-170_2693-148del	XP_011514488.1:n.2693-170_2693-148del
XM_017012195.1:c.2560_2582del	XP_016867684.1:p.Glu854ProfsTer8
XM_017012196.1:c.2533_2555del	XP_016867685.1:p.Glu845ProfsTer8
NM_000238.4:c.2710_2732del MANE Select	NP_000229.1:p.Glu904ProfsTer8
NM_172057.3:c.1690_1712del	NP_742054.1:p.Glu564ProfsTer8