Canonical Allele Identifier: CA645565632

Gene: KCNH2

Linked Data

• COSMIC: COSM6202785 ; COSM6202786

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948944_150948980del , CM000669.2:g.150948944_150948980del	GRCh38
NC_000007.13:g.150646032_150646068del , CM000669.1:g.150646032_150646068del	GRCh37
NC_000007.12:g.150276965_150277001del	NCBI36
NG_008916.1:g.33949_33985del , LRG_288:g.33949_33985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3303_3339del
ENST00000262186.10:c.2470_2506del MANE Select	ENSP00000262186.5:p.Ala824ThrfsTer?
ENST00000330883.9:c.1450_1486del	ENSP00000328531.4:p.Ala484ThrfsTer?
ENST00000262186.9:c.2470_2506del	ENSP00000262186.5:p.Ala824ThrfsTer?
ENST00000330883.8:c.1450_1486del	ENSP00000328531.4:p.Ala484ThrfsTer?
NM_000238.3:c.2470_2506del , LRG_288t1:c.2470_2506del	NP_000229.1:p.Ala824ThrfsTer?
NM_172057.2:c.1450_1486del , LRG_288t3:c.1450_1486del	NP_742054.1:p.Ala484ThrfsTer?
XM_011516185.1:c.2170_2206del	XP_011514487.1:p.Ala724ThrfsTer?
XM_011516186.1:c.2470_2506del	XP_011514488.1:p.Ala824ThrfsTer?
XM_011516185.2:c.2170_2206del	XP_011514487.1:p.Ala724ThrfsTer?
XM_011516186.3:c.2470_2506del	XP_011514488.1:p.Ala824ThrfsTer?
XM_017012195.1:c.2320_2356del	XP_016867684.1:p.Ala774ThrfsTer?
XM_017012196.1:c.2293_2329del	XP_016867685.1:p.Ala765ThrfsTer?
NM_000238.4:c.2470_2506del MANE Select	NP_000229.1:p.Ala824ThrfsTer?
NM_172057.3:c.1450_1486del	NP_742054.1:p.Ala484ThrfsTer?