Canonical Allele Identifier: CA2580077678

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1785054
• ClinVar RCV Id: RCV002421803

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974747_150974813del , CM000669.2:g.150974747_150974813del	GRCh38
NC_000007.13:g.150671835_150671901del , CM000669.1:g.150671835_150671901del	GRCh37
NC_000007.12:g.150302768_150302834del	NCBI36
NG_008916.1:g.8114_8180del , LRG_288:g.8114_8180del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.205_271del MANE Select	ENSP00000262186.5:p.Leu69SerfsTer25
ENST00000262186.9:c.205_271del	ENSP00000262186.5:p.Leu69SerfsTer25
ENST00000430723.4:c.28_94del	ENSP00000387657.4:p.Leu10SerfsTer25
ENST00000532957.5:n.428_494del
NM_000238.3:c.205_271del , LRG_288t1:c.205_271del	NP_000229.1:p.Leu69SerfsTer25
NM_172056.2:c.205_271del , LRG_288t2:c.205_271del	NP_742053.1:p.Leu69SerfsTer25
XM_011516186.1:c.205_271del	XP_011514488.1:p.Leu69SerfsTer25
XM_011516186.3:c.205_271del	XP_011514488.1:p.Leu69SerfsTer25
XM_017012196.1:c.28_94del	XP_016867685.1:p.Leu10SerfsTer25
NM_000238.4:c.205_271del MANE Select	NP_000229.1:p.Leu69SerfsTer25