Canonical Allele Identifier: CA2697557669

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2770983
• ClinVar RCV Id: RCV003532509

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950147_150950168del , CM000669.2:g.150950147_150950168del	GRCh38
NC_000007.13:g.150647235_150647256del , CM000669.1:g.150647235_150647256del	GRCh37
NC_000007.12:g.150278168_150278189del	NCBI36
NG_008916.1:g.32759_32780del , LRG_288:g.32759_32780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1696_1717del
ENST00000684241.1:n.3231_3231+21del
ENST00000262186.10:c.2398_2398+21del
ENST00000330883.9:c.1378_1378+21del
ENST00000262186.9:c.2398_2398+21del
ENST00000330883.8:c.1378_1378+21del
ENST00000430723.4:c.2050_2071del	ENSP00000387657.4:p.Gly684LeufsTer16
ENST00000461280.1:n.1685_1706del
ENST00000473610.5:n.2030_2051del
ENST00000532957.5:n.2621_2642del
NM_000238.3:c.2398_2398+21del , LRG_288t1:c.2398_2398+21del
NM_001204798.1:c.1378_1399del	NP_001191727.1:p.Gly460LeufsTer16
NM_172056.2:c.2398_2419del , LRG_288t2:c.2398_2419del	NP_742053.1:p.Gly800LeufsTer16
NM_172057.2:c.1378_1378+21del , LRG_288t3:c.1378_1378+21del
XM_011516185.1:c.2098_2098+21del
XM_011516186.1:c.2398_2398+21del
XM_011516185.2:c.2098_2098+21del
XM_011516186.3:c.2398_2398+21del
XM_017012195.1:c.2248_2248+21del
XM_017012196.1:c.2221_2221+21del
NM_000238.4:c.2398_2398+21del
NM_001204798.2:c.1378_1399del	NP_001191727.1:p.Gly460LeufsTer16
NM_172057.3:c.1378_1378+21del