Canonical Allele Identifier: CA2546926348
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951344_150951345insG , CM000669.2:g.150951344_150951345insG GRCh38
NC_000007.13:g.150648432_150648433insG , CM000669.1:g.150648432_150648433insG GRCh37
NC_000007.12:g.150279365_150279366insG NCBI36
NG_008916.1:g.31582_31583insC , LRG_288:g.31582_31583insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1243+103_1243+104insC
ENST00000683359.1:n.69+103_69+104insC
ENST00000684241.1:n.2778+103_2778+104insC
ENST00000262186.10:c.1945+103_1945+104insC MANE Select ENSP00000262186.5:n.1945+103_1945+104insC
ENST00000330883.9:c.925+103_925+104insC ENSP00000328531.4:n.925+103_925+104insC
ENST00000262186.9:c.1945+103_1945+104insC ENSP00000262186.5:n.1945+103_1945+104insC
ENST00000330883.8:c.925+103_925+104insC ENSP00000328531.4:n.925+103_925+104insC
ENST00000430723.4:c.1597+103_1597+104insC ENSP00000387657.4:n.1597+103_1597+104insC
ENST00000461280.1:n.1232+103_1232+104insC
ENST00000473610.5:n.1353_1354insC
ENST00000532957.5:n.2168+103_2168+104insC
NM_000238.3:c.1945+103_1945+104insC , LRG_288t1:c.1945+103_1945+104insC NP_000229.1:n.1945+103_1945+104insC
NM_001204798.1:c.925+103_925+104insC NP_001191727.1:n.925+103_925+104insC
NM_172056.2:c.1945+103_1945+104insC , LRG_288t2:c.1945+103_1945+104insC NP_742053.1:n.1945+103_1945+104insC
NM_172057.2:c.925+103_925+104insC , LRG_288t3:c.925+103_925+104insC NP_742054.1:n.925+103_925+104insC
XM_011516185.1:c.1645+103_1645+104insC XP_011514487.1:n.1645+103_1645+104insC
XM_011516186.1:c.1945+103_1945+104insC XP_011514488.1:n.1945+103_1945+104insC
XM_011516185.2:c.1645+103_1645+104insC XP_011514487.1:n.1645+103_1645+104insC
XM_011516186.3:c.1945+103_1945+104insC XP_011514488.1:n.1945+103_1945+104insC
XM_017012195.1:c.1795+103_1795+104insC XP_016867684.1:n.1795+103_1795+104insC
XM_017012196.1:c.1768+103_1768+104insC XP_016867685.1:n.1768+103_1768+104insC
NM_000238.4:c.1945+103_1945+104insC MANE Select NP_000229.1:n.1945+103_1945+104insC
NM_001204798.2:c.925+103_925+104insC NP_001191727.1:n.925+103_925+104insC
NM_172057.3:c.925+103_925+104insC NP_742054.1:n.925+103_925+104insC