Canonical Allele Identifier: CA1630855638
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47995860A= , CM000674.2:g.47995860A= GRCh38
NC_000012.11:g.48389643A= , CM000674.1:g.48389643A= GRCh37
NC_000012.10:g.46675910A= NCBI36
NG_008072.1:g.13643T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.447+15T= ENSP00000338213.6:n.447+15T=
ENST00000380518.8:c.654+15T= MANE Select ENSP00000369889.3:n.654+15T=
ENST00000337299.6:c.447+15T= ENSP00000338213.6:n.447+15T=
ENST00000380518.7:c.654+15T= ENSP00000369889.3:n.654+15T=
NM_001844.4:c.654+15T= NP_001835.3:n.654+15T=
NM_033150.2:c.447+15T= NP_149162.2:n.447+15T=
XM_006719242.2:c.798+15T= XP_006719305.2:n.798+15T=
XM_011537928.1:c.798+15T= XP_011536230.1:n.798+15T=
XM_011537929.1:c.798+15T= XP_011536231.1:n.798+15T=
XM_011537930.1:c.798+15T= XP_011536232.1:n.798+15T=
XM_011537931.1:c.798+15T= XP_011536233.1:n.798+15T=
XM_011537932.1:c.798+15T= XP_011536234.1:n.798+15T=
XM_011537933.1:c.798+15T= XP_011536235.1:n.798+15T=
XM_011537934.1:c.795+15T= XP_011536236.1:n.795+15T=
XM_017018828.1:c.798+15T= XP_016874317.1:n.798+15T=
XM_017018829.1:c.795+15T= XP_016874318.1:n.795+15T=
XM_017018830.1:c.588+15T= XP_016874319.1:n.588+15T=
XM_017018831.2:c.108+15T= XP_016874320.1:n.108+15T=
NM_001844.5:c.654+15T= MANE Select NP_001835.3:n.654+15T=
NM_033150.3:c.447+15T= NP_149162.2:n.447+15T=