Canonical Allele Identifier: CA2685602705
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150955249_150955251del , CM000669.2:g.150955249_150955251del GRCh38
NC_000007.13:g.150652337_150652339del , CM000669.1:g.150652337_150652339del GRCh37
NC_000007.12:g.150283270_150283272del NCBI36
NG_008916.1:g.27677_27679del , LRG_288:g.27677_27679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.426+146_426+148del
ENST00000684241.1:n.1961+2041_1961+2043del
ENST00000262186.10:c.1128+2041_1128+2043del MANE Select ENSP00000262186.5:n.1128+2041_1128+2043del
ENST00000330883.9:c.108+146_108+148del ENSP00000328531.4:n.108+146_108+148del
ENST00000262186.9:c.1128+2041_1128+2043del ENSP00000262186.5:n.1128+2041_1128+2043del
ENST00000330883.8:c.108+146_108+148del ENSP00000328531.4:n.108+146_108+148del
ENST00000430723.4:c.780+2041_780+2043del ENSP00000387657.4:n.780+2041_780+2043del
ENST00000461280.1:n.415+146_415+148del
ENST00000473610.5:n.433+146_433+148del
ENST00000532957.5:n.1351+2041_1351+2043del
NM_000238.3:c.1128+2041_1128+2043del , LRG_288t1:c.1128+2041_1128+2043del NP_000229.1:n.1128+2041_1128+2043del
NM_001204798.1:c.108+146_108+148del NP_001191727.1:n.108+146_108+148del
NM_172056.2:c.1128+2041_1128+2043del , LRG_288t2:c.1128+2041_1128+2043del NP_742053.1:n.1128+2041_1128+2043del
NM_172057.2:c.108+146_108+148del , LRG_288t3:c.108+146_108+148del NP_742054.1:n.108+146_108+148del
XM_011516185.1:c.828+2041_828+2043del XP_011514487.1:n.828+2041_828+2043del
XM_011516186.1:c.1128+2041_1128+2043del XP_011514488.1:n.1128+2041_1128+2043del
XM_011516185.2:c.828+2041_828+2043del XP_011514487.1:n.828+2041_828+2043del
XM_011516186.3:c.1128+2041_1128+2043del XP_011514488.1:n.1128+2041_1128+2043del
XM_017012195.1:c.978+2041_978+2043del XP_016867684.1:n.978+2041_978+2043del
XM_017012196.1:c.951+2041_951+2043del XP_016867685.1:n.951+2041_951+2043del
NM_000238.4:c.1128+2041_1128+2043del MANE Select NP_000229.1:n.1128+2041_1128+2043del
NM_001204798.2:c.108+146_108+148del NP_001191727.1:n.108+146_108+148del
NM_172057.3:c.108+146_108+148del NP_742054.1:n.108+146_108+148del