Canonical Allele Identifier: CA2580077717

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1736686
• ClinVar RCV Id: RCV002375537

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959647del , CM000669.2:g.150959647del	GRCh38
NC_000007.13:g.150656735del , CM000669.1:g.150656735del	GRCh37
NC_000007.12:g.150287668del	NCBI36
NG_008916.1:g.23280del , LRG_288:g.23280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1230del
ENST00000262186.10:c.397del MANE Select	ENSP00000262186.5:p.Met133TrpfsTer?
ENST00000262186.9:c.397del	ENSP00000262186.5:p.Met133TrpfsTer?
ENST00000430723.4:c.220del	ENSP00000387657.4:p.Met74TrpfsTer11
ENST00000532957.5:n.620del
NM_000238.3:c.397del , LRG_288t1:c.397del	NP_000229.1:p.Met133TrpfsTer?
NM_172056.2:c.397del , LRG_288t2:c.397del	NP_742053.1:p.Met133TrpfsTer?
XM_011516185.1:c.97del	XP_011514487.1:p.Met33TrpfsTer?
XM_011516186.1:c.397del	XP_011514488.1:p.Met133TrpfsTer?
XM_011516185.2:c.97del	XP_011514487.1:p.Met33TrpfsTer?
XM_011516186.3:c.397del	XP_011514488.1:p.Met133TrpfsTer?
XM_017012195.1:c.247del	XP_016867684.1:p.Met83TrpfsTer?
XM_017012196.1:c.220del	XP_016867685.1:p.Met74TrpfsTer?
NM_000238.4:c.397del MANE Select	NP_000229.1:p.Met133TrpfsTer?