Canonical Allele Identifier: CA1752461875
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974734T= , CM000669.2:g.150974734T= GRCh38
NC_000007.13:g.150671822T= , CM000669.1:g.150671822T= GRCh37
NC_000007.12:g.150302755T= NCBI36
NG_008916.1:g.8193A= , LRG_288:g.8193A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.284A= MANE Select ENSP00000262186.5:p.Glu95=
ENST00000262186.9:c.284A= ENSP00000262186.5:p.Glu95=
ENST00000430723.4:c.107A= ENSP00000387657.4:p.Glu36=
ENST00000532957.5:n.507A=
NM_000238.3:c.284A= , LRG_288t1:c.284A= NP_000229.1:p.Glu95=
NM_172056.2:c.284A= , LRG_288t2:c.284A= NP_742053.1:p.Glu95=
XM_011516186.1:c.284A= XP_011514488.1:p.Glu95=
XM_011516186.3:c.284A= XP_011514488.1:p.Glu95=
XM_017012196.1:c.107A= XP_016867685.1:p.Glu36=
NM_000238.4:c.284A= MANE Select NP_000229.1:p.Glu95=