Canonical Allele Identifier: CA2697549698

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2753718
• ClinVar RCV Id: RCV003531792

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958317del , CM000669.2:g.150958317del	GRCh38
NC_000007.13:g.150655405del , CM000669.1:g.150655405del	GRCh37
NC_000007.12:g.150286338del	NCBI36
NG_008916.1:g.24611del , LRG_288:g.24611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1492del
ENST00000262186.10:c.659del MANE Select	ENSP00000262186.5:p.Asn220ThrfsTer?
ENST00000262186.9:c.659del	ENSP00000262186.5:p.Asn220ThrfsTer?
ENST00000430723.4:c.311del	ENSP00000387657.4:p.Asn104ThrfsTer?
ENST00000532957.5:n.882del
NM_000238.3:c.659del , LRG_288t1:c.659del	NP_000229.1:p.Asn220ThrfsTer?
NM_172056.2:c.659del , LRG_288t2:c.659del	NP_742053.1:p.Asn220ThrfsTer?
XM_011516185.1:c.359del	XP_011514487.1:p.Asn120ThrfsTer?
XM_011516186.1:c.659del	XP_011514488.1:p.Asn220ThrfsTer?
XM_011516185.2:c.359del	XP_011514487.1:p.Asn120ThrfsTer?
XM_011516186.3:c.659del	XP_011514488.1:p.Asn220ThrfsTer?
XM_017012195.1:c.509del	XP_016867684.1:p.Asn170ThrfsTer?
XM_017012196.1:c.482del	XP_016867685.1:p.Asn161ThrfsTer?
NM_000238.4:c.659del MANE Select	NP_000229.1:p.Asn220ThrfsTer?