Canonical Allele Identifier: CA2685607608
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951384_150951387del , CM000669.2:g.150951384_150951387del GRCh38
NC_000007.13:g.150648472_150648475del , CM000669.1:g.150648472_150648475del GRCh37
NC_000007.12:g.150279405_150279408del NCBI36
NG_008916.1:g.31540_31543del , LRG_288:g.31540_31543del

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1243+61_1243+64del
ENST00000683359.1:n.69+61_69+64del
ENST00000684241.1:n.2778+61_2778+64del
ENST00000262186.10:c.1945+61_1945+64del MANE Select ENSP00000262186.5:n.1945+61_1945+64del
ENST00000330883.9:c.925+61_925+64del ENSP00000328531.4:n.925+61_925+64del
ENST00000262186.9:c.1945+61_1945+64del ENSP00000262186.5:n.1945+61_1945+64del
ENST00000330883.8:c.925+61_925+64del ENSP00000328531.4:n.925+61_925+64del
ENST00000430723.4:c.1597+61_1597+64del ENSP00000387657.4:n.1597+61_1597+64del
ENST00000461280.1:n.1232+61_1232+64del
ENST00000473610.5:n.1311_1314del
ENST00000532957.5:n.2168+61_2168+64del
NM_000238.3:c.1945+61_1945+64del , LRG_288t1:c.1945+61_1945+64del NP_000229.1:n.1945+61_1945+64del
NM_001204798.1:c.925+61_925+64del NP_001191727.1:n.925+61_925+64del
NM_172056.2:c.1945+61_1945+64del , LRG_288t2:c.1945+61_1945+64del NP_742053.1:n.1945+61_1945+64del
NM_172057.2:c.925+61_925+64del , LRG_288t3:c.925+61_925+64del NP_742054.1:n.925+61_925+64del
XM_011516185.1:c.1645+61_1645+64del XP_011514487.1:n.1645+61_1645+64del
XM_011516186.1:c.1945+61_1945+64del XP_011514488.1:n.1945+61_1945+64del
XM_011516185.2:c.1645+61_1645+64del XP_011514487.1:n.1645+61_1645+64del
XM_011516186.3:c.1945+61_1945+64del XP_011514488.1:n.1945+61_1945+64del
XM_017012195.1:c.1795+61_1795+64del XP_016867684.1:n.1795+61_1795+64del
XM_017012196.1:c.1768+61_1768+64del XP_016867685.1:n.1768+61_1768+64del
NM_000238.4:c.1945+61_1945+64del MANE Select NP_000229.1:n.1945+61_1945+64del
NM_001204798.2:c.925+61_925+64del NP_001191727.1:n.925+61_925+64del
NM_172057.3:c.925+61_925+64del NP_742054.1:n.925+61_925+64del