Canonical Allele Identifier: CA2778425833
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950438dup , CM000669.2:g.150950438dup GRCh38
NC_000007.13:g.150647526dup , CM000669.1:g.150647526dup GRCh37
NC_000007.12:g.150278459dup NCBI36
NG_008916.1:g.32493dup , LRG_288:g.32493dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1444-14dup
ENST00000684241.1:n.2979-14dup
ENST00000262186.10:c.2146-14dup MANE Select ENSP00000262186.5:n.2146-14dup
ENST00000330883.9:c.1126-14dup ENSP00000328531.4:n.1126-14dup
ENST00000262186.9:c.2146-14dup ENSP00000262186.5:n.2146-14dup
ENST00000330883.8:c.1126-14dup ENSP00000328531.4:n.1126-14dup
ENST00000430723.4:c.1798-14dup ENSP00000387657.4:n.1798-14dup
ENST00000461280.1:n.1433-14dup
ENST00000473610.5:n.1778-14dup
ENST00000532957.5:n.2369-14dup
NM_000238.3:c.2146-14dup , LRG_288t1:c.2146-14dup NP_000229.1:n.2146-14dup
NM_001204798.1:c.1126-14dup NP_001191727.1:n.1126-14dup
NM_172056.2:c.2146-14dup , LRG_288t2:c.2146-14dup NP_742053.1:n.2146-14dup
NM_172057.2:c.1126-14dup , LRG_288t3:c.1126-14dup NP_742054.1:n.1126-14dup
XM_011516185.1:c.1846-14dup XP_011514487.1:n.1846-14dup
XM_011516186.1:c.2146-14dup XP_011514488.1:n.2146-14dup
XM_011516185.2:c.1846-14dup XP_011514487.1:n.1846-14dup
XM_011516186.3:c.2146-14dup XP_011514488.1:n.2146-14dup
XM_017012195.1:c.1996-14dup XP_016867684.1:n.1996-14dup
XM_017012196.1:c.1969-14dup XP_016867685.1:n.1969-14dup
NM_000238.4:c.2146-14dup MANE Select NP_000229.1:n.2146-14dup
NM_001204798.2:c.1126-14dup NP_001191727.1:n.1126-14dup
NM_172057.3:c.1126-14dup NP_742054.1:n.1126-14dup