Canonical Allele Identifier: CA458872397

Gene: KCNH2

Linked Data

• COSMIC: COSM245146
• MyVariant Identifiers: chr7:g.150655408del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958321del , CM000669.2:g.150958321del	GRCh38
NC_000007.13:g.150655409del , CM000669.1:g.150655409del	GRCh37
NC_000007.12:g.150286342del	NCBI36
NG_008916.1:g.24607del , LRG_288:g.24607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1488del
ENST00000262186.10:c.655del MANE Select	ENSP00000262186.5:p.Asp219ThrfsTer?
ENST00000262186.9:c.655del	ENSP00000262186.5:p.Asp219ThrfsTer?
ENST00000430723.4:c.307del	ENSP00000387657.4:p.Asp103ThrfsTer?
ENST00000532957.5:n.878del
NM_000238.3:c.655del , LRG_288t1:c.655del	NP_000229.1:p.Asp219ThrfsTer?
NM_172056.2:c.655del , LRG_288t2:c.655del	NP_742053.1:p.Asp219ThrfsTer?
XM_011516185.1:c.355del	XP_011514487.1:p.Asp119ThrfsTer?
XM_011516186.1:c.655del	XP_011514488.1:p.Asp219ThrfsTer?
XM_011516185.2:c.355del	XP_011514487.1:p.Asp119ThrfsTer?
XM_011516186.3:c.655del	XP_011514488.1:p.Asp219ThrfsTer?
XM_017012195.1:c.505del	XP_016867684.1:p.Asp169ThrfsTer?
XM_017012196.1:c.478del	XP_016867685.1:p.Asp160ThrfsTer?
NM_000238.4:c.655del MANE Select	NP_000229.1:p.Asp219ThrfsTer?