Canonical Allele Identifier: CA1752418680
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958425C= , CM000669.2:g.150958425C= GRCh38
NC_000007.13:g.150655513C= , CM000669.1:g.150655513C= GRCh37
NC_000007.12:g.150286446C= NCBI36
NG_008916.1:g.24502G= , LRG_288:g.24502G=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1383G=
ENST00000262186.10:c.550G= MANE Select ENSP00000262186.5:p.Gly184=
ENST00000262186.9:c.550G= ENSP00000262186.5:p.Gly184=
ENST00000430723.4:c.235-33G= ENSP00000387657.4:n.235-33G=
ENST00000532957.5:n.773G=
NM_000238.3:c.550G= , LRG_288t1:c.550G= NP_000229.1:p.Gly184=
NM_172056.2:c.550G= , LRG_288t2:c.550G= NP_742053.1:p.Gly184=
XM_011516185.1:c.250G= XP_011514487.1:p.Gly84=
XM_011516186.1:c.550G= XP_011514488.1:p.Gly184=
XM_011516185.2:c.250G= XP_011514487.1:p.Gly84=
XM_011516186.3:c.550G= XP_011514488.1:p.Gly184=
XM_017012195.1:c.400G= XP_016867684.1:p.Gly134=
XM_017012196.1:c.373G= XP_016867685.1:p.Gly125=
NM_000238.4:c.550G= MANE Select NP_000229.1:p.Gly184=