Canonical Allele Identifier: CA2579063097
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974998del , CM000669.2:g.150974998del GRCh38
NC_000007.13:g.150672086del , CM000669.1:g.150672086del GRCh37
NC_000007.12:g.150303019del NCBI36
NG_008916.1:g.7931del , LRG_288:g.7931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.77-55del MANE Select ENSP00000262186.5:n.77-55del
ENST00000262186.9:c.77-55del ENSP00000262186.5:n.77-55del
ENST00000430723.4:c.-101-55del ENSP00000387657.4:n.-101-55del
ENST00000532957.5:n.300-55del
NM_000238.3:c.77-55del , LRG_288t1:c.77-55del NP_000229.1:n.77-55del
NM_172056.2:c.77-55del , LRG_288t2:c.77-55del NP_742053.1:n.77-55del
XM_011516186.1:c.77-55del XP_011514488.1:n.77-55del
XM_011516186.3:c.77-55del XP_011514488.1:n.77-55del
XM_017012196.1:c.-102+29del XP_016867685.1:n.-102+29del
NM_000238.4:c.77-55del MANE Select NP_000229.1:n.77-55del