Canonical Allele Identifier: CA835215633
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1397160741

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977356_150977358del , CM000669.2:g.150977356_150977358del GRCh38
NC_000007.13:g.150674444_150674446del , CM000669.1:g.150674444_150674446del GRCh37
NC_000007.12:g.150305377_150305379del NCBI36
NG_008916.1:g.5573_5575del , LRG_288:g.5573_5575del

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.76+484_76+486del MANE Select ENSP00000262186.5:n.76+484_76+486del
ENST00000262186.9:c.76+484_76+486del ENSP00000262186.5:n.76+484_76+486del
ENST00000430723.4:c.-102+484_-102+486del ENSP00000387657.4:n.-102+484_-102+486del
ENST00000532957.5:n.299+484_299+486del
NM_000238.3:c.76+484_76+486del , LRG_288t1:c.76+484_76+486del NP_000229.1:n.76+484_76+486del
NM_172056.2:c.76+484_76+486del , LRG_288t2:c.76+484_76+486del NP_742053.1:n.76+484_76+486del
XM_011516186.1:c.76+484_76+486del XP_011514488.1:n.76+484_76+486del
XM_011516186.3:c.76+484_76+486del XP_011514488.1:n.76+484_76+486del
NM_000238.4:c.76+484_76+486del MANE Select NP_000229.1:n.76+484_76+486del