Canonical Allele Identifier: CA2739278347
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2858211
ClinVar RCV Id: RCV003648567

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958140del , CM000669.2:g.150958140del GRCh38
NC_000007.13:g.150655228del , CM000669.1:g.150655228del GRCh37
NC_000007.12:g.150286161del NCBI36
NG_008916.1:g.24787del , LRG_288:g.24787del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1668del
ENST00000262186.10:c.835del MANE Select ENSP00000262186.5:p.Val279CysfsTer?
ENST00000262186.9:c.835del ENSP00000262186.5:p.Val279CysfsTer?
ENST00000430723.4:c.487del ENSP00000387657.4:p.Val163CysfsTer?
ENST00000532957.5:n.1058del
NM_000238.3:c.835del , LRG_288t1:c.835del NP_000229.1:p.Val279CysfsTer?
NM_172056.2:c.835del , LRG_288t2:c.835del NP_742053.1:p.Val279CysfsTer?
XM_011516185.1:c.535del XP_011514487.1:p.Val179CysfsTer?
XM_011516186.1:c.835del XP_011514488.1:p.Val279CysfsTer?
XM_011516185.2:c.535del XP_011514487.1:p.Val179CysfsTer?
XM_011516186.3:c.835del XP_011514488.1:p.Val279CysfsTer?
XM_017012195.1:c.685del XP_016867684.1:p.Val229CysfsTer?
XM_017012196.1:c.658del XP_016867685.1:p.Val220CysfsTer?
NM_000238.4:c.835del MANE Select NP_000229.1:p.Val279CysfsTer?