Canonical Allele Identifier: CA305307
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200634
ClinVar RCV Id: RCV000181974
dbSNP Id: rs794728436

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952665dup , CM000669.2:g.150952665dup GRCh38
NC_000007.13:g.150649753dup , CM000669.1:g.150649753dup GRCh37
NC_000007.12:g.150280686dup NCBI36
NG_008916.1:g.30264dup , LRG_288:g.30264dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.617dup
ENST00000684116.1:n.212dup
ENST00000684241.1:n.2152dup
ENST00000262186.10:c.1319dup MANE Select ENSP00000262186.5:p.Pro441AlafsTer?
ENST00000330883.9:c.299dup ENSP00000328531.4:p.Pro101AlafsTer?
ENST00000262186.9:c.1319dup ENSP00000262186.5:p.Pro441AlafsTer?
ENST00000330883.8:c.299dup ENSP00000328531.4:p.Pro101AlafsTer?
ENST00000430723.4:c.971dup ENSP00000387657.4:p.Pro325AlafsTer?
ENST00000461280.1:n.606dup
ENST00000473610.5:n.624dup
ENST00000532957.5:n.1542dup
NM_000238.3:c.1319dup , LRG_288t1:c.1319dup NP_000229.1:p.Pro441AlafsTer?
NM_001204798.1:c.299dup NP_001191727.1:p.Pro101AlafsTer?
NM_172056.2:c.1319dup , LRG_288t2:c.1319dup NP_742053.1:p.Pro441AlafsTer?
NM_172057.2:c.299dup , LRG_288t3:c.299dup NP_742054.1:p.Pro101AlafsTer?
XM_011516185.1:c.1019dup XP_011514487.1:p.Pro341AlafsTer?
XM_011516186.1:c.1319dup XP_011514488.1:p.Pro441AlafsTer?
XM_011516185.2:c.1019dup XP_011514487.1:p.Pro341AlafsTer?
XM_011516186.3:c.1319dup XP_011514488.1:p.Pro441AlafsTer?
XM_017012195.1:c.1169dup XP_016867684.1:p.Pro391AlafsTer?
XM_017012196.1:c.1142dup XP_016867685.1:p.Pro382AlafsTer?
NM_000238.4:c.1319dup MANE Select NP_000229.1:p.Pro441AlafsTer?
NM_001204798.2:c.299dup NP_001191727.1:p.Pro101AlafsTer?
NM_172057.3:c.299dup NP_742054.1:p.Pro101AlafsTer?