Canonical Allele Identifier: CA2685603554

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950148-GCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950149_150950215del , CM000669.2:g.150950149_150950215del	GRCh38
NC_000007.13:g.150647237_150647303del , CM000669.1:g.150647237_150647303del	GRCh37
NC_000007.12:g.150278170_150278236del	NCBI36
NG_008916.1:g.32712_32778del , LRG_288:g.32712_32778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1649_1715del
ENST00000684241.1:n.3184_3231+19del
ENST00000262186.10:c.2351_2398+19del
ENST00000330883.9:c.1331_1378+19del
ENST00000262186.9:c.2351_2398+19del
ENST00000330883.8:c.1331_1378+19del
ENST00000430723.4:c.2003_2069del	ENSP00000387657.4:p.Arg668ProfsTer17
ENST00000461280.1:n.1638_1704del
ENST00000473610.5:n.1983_2049del
ENST00000532957.5:n.2574_2640del
NM_000238.3:c.2351_2398+19del , LRG_288t1:c.2351_2398+19del
NM_001204798.1:c.1331_1397del	NP_001191727.1:p.Arg444ProfsTer17
NM_172056.2:c.2351_2417del , LRG_288t2:c.2351_2417del	NP_742053.1:p.Arg784ProfsTer17
NM_172057.2:c.1331_1378+19del , LRG_288t3:c.1331_1378+19del
XM_011516185.1:c.2051_2098+19del
XM_011516186.1:c.2351_2398+19del
XM_011516185.2:c.2051_2098+19del
XM_011516186.3:c.2351_2398+19del
XM_017012195.1:c.2201_2248+19del
XM_017012196.1:c.2174_2221+19del
NM_000238.4:c.2351_2398+19del
NM_001204798.2:c.1331_1397del	NP_001191727.1:p.Arg444ProfsTer17
NM_172057.3:c.1331_1378+19del