Canonical Allele Identifier: CA1752433813
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950541C= , CM000669.2:g.150950541C= GRCh38
NC_000007.13:g.150647629C= , CM000669.1:g.150647629C= GRCh37
NC_000007.12:g.150278562C= NCBI36
NG_008916.1:g.32386G= , LRG_288:g.32386G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1444-121G=
ENST00000684241.1:n.2979-121G=
ENST00000262186.10:c.2146-121G= MANE Select ENSP00000262186.5:n.2146-121G=
ENST00000330883.9:c.1126-121G= ENSP00000328531.4:n.1126-121G=
ENST00000262186.9:c.2146-121G= ENSP00000262186.5:n.2146-121G=
ENST00000330883.8:c.1126-121G= ENSP00000328531.4:n.1126-121G=
ENST00000430723.4:c.1798-121G= ENSP00000387657.4:n.1798-121G=
ENST00000461280.1:n.1433-121G=
ENST00000473610.5:n.1778-121G=
ENST00000532957.5:n.2369-121G=
NM_000238.3:c.2146-121G= , LRG_288t1:c.2146-121G= NP_000229.1:n.2146-121G=
NM_001204798.1:c.1126-121G= NP_001191727.1:n.1126-121G=
NM_172056.2:c.2146-121G= , LRG_288t2:c.2146-121G= NP_742053.1:n.2146-121G=
NM_172057.2:c.1126-121G= , LRG_288t3:c.1126-121G= NP_742054.1:n.1126-121G=
XM_011516185.1:c.1846-121G= XP_011514487.1:n.1846-121G=
XM_011516186.1:c.2146-121G= XP_011514488.1:n.2146-121G=
XM_011516185.2:c.1846-121G= XP_011514487.1:n.1846-121G=
XM_011516186.3:c.2146-121G= XP_011514488.1:n.2146-121G=
XM_017012195.1:c.1996-121G= XP_016867684.1:n.1996-121G=
XM_017012196.1:c.1969-121G= XP_016867685.1:n.1969-121G=
NM_000238.4:c.2146-121G= MANE Select NP_000229.1:n.2146-121G=
NM_001204798.2:c.1126-121G= NP_001191727.1:n.1126-121G=
NM_172057.3:c.1126-121G= NP_742054.1:n.1126-121G=