Canonical Allele Identifier: CA2685604177
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150955653_150955660del , CM000669.2:g.150955653_150955660del GRCh38
NC_000007.13:g.150652741_150652748del , CM000669.1:g.150652741_150652748del GRCh37
NC_000007.12:g.150283674_150283681del NCBI36
NG_008916.1:g.27268_27275del , LRG_288:g.27268_27275del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.163_170del
ENST00000684241.1:n.1961+1632_1961+1639del
ENST00000262186.10:c.1128+1632_1128+1639del MANE Select ENSP00000262186.5:n.1128+1632_1128+1639del
ENST00000330883.9:c.-156_-149del ENSP00000328531.4:n.-156_-149del
ENST00000262186.9:c.1128+1632_1128+1639del ENSP00000262186.5:n.1128+1632_1128+1639del
ENST00000330883.8:c.-156_-149del ENSP00000328531.4:n.-156_-149del
ENST00000430723.4:c.780+1632_780+1639del ENSP00000387657.4:n.780+1632_780+1639del
ENST00000461280.1:n.152_159del
ENST00000473610.5:n.170_177del
ENST00000532957.5:n.1351+1632_1351+1639del
NM_000238.3:c.1128+1632_1128+1639del , LRG_288t1:c.1128+1632_1128+1639del NP_000229.1:n.1128+1632_1128+1639del
NM_001204798.1:c.-156_-149del NP_001191727.1:n.-156_-149del
NM_172056.2:c.1128+1632_1128+1639del , LRG_288t2:c.1128+1632_1128+1639del NP_742053.1:n.1128+1632_1128+1639del
NM_172057.2:c.-156_-149del , LRG_288t3:c.-156_-149del NP_742054.1:n.-156_-149del
XM_011516185.1:c.828+1632_828+1639del XP_011514487.1:n.828+1632_828+1639del
XM_011516186.1:c.1128+1632_1128+1639del XP_011514488.1:n.1128+1632_1128+1639del
XM_011516185.2:c.828+1632_828+1639del XP_011514487.1:n.828+1632_828+1639del
XM_011516186.3:c.1128+1632_1128+1639del XP_011514488.1:n.1128+1632_1128+1639del
XM_017012195.1:c.978+1632_978+1639del XP_016867684.1:n.978+1632_978+1639del
XM_017012196.1:c.951+1632_951+1639del XP_016867685.1:n.951+1632_951+1639del
NM_000238.4:c.1128+1632_1128+1639del MANE Select NP_000229.1:n.1128+1632_1128+1639del
NM_001204798.2:c.-156_-149del NP_001191727.1:n.-156_-149del
NM_172057.3:c.-156_-149del NP_742054.1:n.-156_-149del