Canonical Allele Identifier: CA393625294
Gene: ARNT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80591670C>A , CM000677.2:g.80591670C>A GRCh38
NC_000015.9:g.80884011C>A , CM000677.1:g.80884011C>A GRCh37
NC_000015.8:g.78671066C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303329.9:c.2021C>A MANE Select ENSP00000307479.4:p.Ser674Tyr
ENST00000303329.8:c.2021C>A ENSP00000307479.4:p.Ser674Tyr
ENST00000527771.5:c.1988C>A ENSP00000453792.1:p.Ser663Tyr
ENST00000533983.5:c.1988C>A ENSP00000453651.1:p.Ser663Tyr
ENST00000610490.4:c.*319C>A ENSP00000483762.1:n.*319C>A
ENST00000622346.4:c.2021C>A ENSP00000479393.1:p.Ser674Tyr
NM_014862.3:c.2021C>A NP_055677.3:p.Ser674Tyr
NM_014862.4:c.2021C>A MANE Select NP_055677.3:p.Ser674Tyr