Canonical Allele Identifier: CA1752434050
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950880T= , CM000669.2:g.150950880T= GRCh38
NC_000007.13:g.150647968T= , CM000669.1:g.150647968T= GRCh37
NC_000007.12:g.150278901T= NCBI36
NG_008916.1:g.32047A= , LRG_288:g.32047A=

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1443+41A=
ENST00000683359.1:n.310A=
ENST00000684241.1:n.2978+41A=
ENST00000262186.10:c.2145+41A= MANE Select ENSP00000262186.5:n.2145+41A=
ENST00000330883.9:c.1125+41A= ENSP00000328531.4:n.1125+41A=
ENST00000262186.9:c.2145+41A= ENSP00000262186.5:n.2145+41A=
ENST00000330883.8:c.1125+41A= ENSP00000328531.4:n.1125+41A=
ENST00000430723.4:c.1797+41A= ENSP00000387657.4:n.1797+41A=
ENST00000461280.1:n.1432+41A=
ENST00000473610.5:n.1777+41A=
ENST00000532957.5:n.2368+41A=
NM_000238.3:c.2145+41A= , LRG_288t1:c.2145+41A= NP_000229.1:n.2145+41A=
NM_001204798.1:c.1125+41A= NP_001191727.1:n.1125+41A=
NM_172056.2:c.2145+41A= , LRG_288t2:c.2145+41A= NP_742053.1:n.2145+41A=
NM_172057.2:c.1125+41A= , LRG_288t3:c.1125+41A= NP_742054.1:n.1125+41A=
XM_011516185.1:c.1845+41A= XP_011514487.1:n.1845+41A=
XM_011516186.1:c.2145+41A= XP_011514488.1:n.2145+41A=
XM_011516185.2:c.1845+41A= XP_011514487.1:n.1845+41A=
XM_011516186.3:c.2145+41A= XP_011514488.1:n.2145+41A=
XM_017012195.1:c.1995+41A= XP_016867684.1:n.1995+41A=
XM_017012196.1:c.1968+41A= XP_016867685.1:n.1968+41A=
NM_000238.4:c.2145+41A= MANE Select NP_000229.1:n.2145+41A=
NM_001204798.2:c.1125+41A= NP_001191727.1:n.1125+41A=
NM_172057.3:c.1125+41A= NP_742054.1:n.1125+41A=