Canonical Allele Identifier: CA2778424863
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947601dup , CM000669.2:g.150947601dup GRCh38
NC_000007.13:g.150644689dup , CM000669.1:g.150644689dup GRCh37
NC_000007.12:g.150275622dup NCBI36
NG_008916.1:g.35328dup , LRG_288:g.35328dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3798+7dup
ENST00000262186.10:c.2965+7dup MANE Select ENSP00000262186.5:n.2965+7dup
ENST00000330883.9:c.1945+7dup ENSP00000328531.4:n.1945+7dup
ENST00000262186.9:c.2965+7dup ENSP00000262186.5:n.2965+7dup
ENST00000330883.8:c.1945+7dup ENSP00000328531.4:n.1945+7dup
NM_000238.3:c.2965+7dup , LRG_288t1:c.2965+7dup NP_000229.1:n.2965+7dup
NM_172057.2:c.1945+7dup , LRG_288t3:c.1945+7dup NP_742054.1:n.1945+7dup
XM_011516185.1:c.2665+7dup XP_011514487.1:n.2665+7dup
XM_011516186.1:c.*45+7dup XP_011514488.1:n.*45+7dup
XM_011516185.2:c.2665+7dup XP_011514487.1:n.2665+7dup
XM_011516186.3:c.*45+7dup XP_011514488.1:n.*45+7dup
XM_017012195.1:c.2815+7dup XP_016867684.1:n.2815+7dup
XM_017012196.1:c.2788+7dup XP_016867685.1:n.2788+7dup
NM_000238.4:c.2965+7dup MANE Select NP_000229.1:n.2965+7dup
NM_172057.3:c.1945+7dup NP_742054.1:n.1945+7dup