Canonical Allele Identifier: CA2580077681
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1762927
ClinVar RCV Id: RCV002430434

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958053_150958148del , CM000669.2:g.150958053_150958148del GRCh38
NC_000007.13:g.150655141_150655236del , CM000669.1:g.150655141_150655236del GRCh37
NC_000007.12:g.150286074_150286169del NCBI36
NG_008916.1:g.24784_24879del , LRG_288:g.24784_24879del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1665_1749+11del
ENST00000262186.10:c.832_916+11del
ENST00000262186.9:c.832_916+11del
ENST00000430723.4:c.484_568+11del
ENST00000532957.5:n.1055_1139+11del
NM_000238.3:c.832_916+11del , LRG_288t1:c.832_916+11del
NM_172056.2:c.832_916+11del , LRG_288t2:c.832_916+11del
XM_011516185.1:c.532_616+11del
XM_011516186.1:c.832_916+11del
XM_011516185.2:c.532_616+11del
XM_011516186.3:c.832_916+11del
XM_017012195.1:c.682_766+11del
XM_017012196.1:c.655_739+11del
NM_000238.4:c.832_916+11del