Canonical Allele Identifier: CA2685607581
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951362_150951371del , CM000669.2:g.150951362_150951371del GRCh38
NC_000007.13:g.150648450_150648459del , CM000669.1:g.150648450_150648459del GRCh37
NC_000007.12:g.150279383_150279392del NCBI36
NG_008916.1:g.31556_31565del , LRG_288:g.31556_31565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1243+77_1243+86del
ENST00000683359.1:n.69+77_69+86del
ENST00000684241.1:n.2778+77_2778+86del
ENST00000262186.10:c.1945+77_1945+86del MANE Select ENSP00000262186.5:n.1945+77_1945+86del
ENST00000330883.9:c.925+77_925+86del ENSP00000328531.4:n.925+77_925+86del
ENST00000262186.9:c.1945+77_1945+86del ENSP00000262186.5:n.1945+77_1945+86del
ENST00000330883.8:c.925+77_925+86del ENSP00000328531.4:n.925+77_925+86del
ENST00000430723.4:c.1597+77_1597+86del ENSP00000387657.4:n.1597+77_1597+86del
ENST00000461280.1:n.1232+77_1232+86del
ENST00000473610.5:n.1327_1336del
ENST00000532957.5:n.2168+77_2168+86del
NM_000238.3:c.1945+77_1945+86del , LRG_288t1:c.1945+77_1945+86del NP_000229.1:n.1945+77_1945+86del
NM_001204798.1:c.925+77_925+86del NP_001191727.1:n.925+77_925+86del
NM_172056.2:c.1945+77_1945+86del , LRG_288t2:c.1945+77_1945+86del NP_742053.1:n.1945+77_1945+86del
NM_172057.2:c.925+77_925+86del , LRG_288t3:c.925+77_925+86del NP_742054.1:n.925+77_925+86del
XM_011516185.1:c.1645+77_1645+86del XP_011514487.1:n.1645+77_1645+86del
XM_011516186.1:c.1945+77_1945+86del XP_011514488.1:n.1945+77_1945+86del
XM_011516185.2:c.1645+77_1645+86del XP_011514487.1:n.1645+77_1645+86del
XM_011516186.3:c.1945+77_1945+86del XP_011514488.1:n.1945+77_1945+86del
XM_017012195.1:c.1795+77_1795+86del XP_016867684.1:n.1795+77_1795+86del
XM_017012196.1:c.1768+77_1768+86del XP_016867685.1:n.1768+77_1768+86del
NM_000238.4:c.1945+77_1945+86del MANE Select NP_000229.1:n.1945+77_1945+86del
NM_001204798.2:c.925+77_925+86del NP_001191727.1:n.925+77_925+86del
NM_172057.3:c.925+77_925+86del NP_742054.1:n.925+77_925+86del