Canonical Allele Identifier: CA2034448252
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47981703C= , CM000674.2:g.47981703C= GRCh38
NC_000012.11:g.48375486C= , CM000674.1:g.48375486C= GRCh37
NC_000012.10:g.46661753C= NCBI36
NG_008072.1:g.27800G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.2202+73G= ENSP00000338213.6:n.2202+73G=
ENST00000380518.8:c.2409+73G= MANE Select ENSP00000369889.3:n.2409+73G=
ENST00000337299.6:c.2202+73G= ENSP00000338213.6:n.2202+73G=
ENST00000380518.7:c.2409+73G= ENSP00000369889.3:n.2409+73G=
ENST00000483376.1:n.587+73G=
ENST00000493991.5:n.1495+73G=
NM_001844.4:c.2409+73G= NP_001835.3:n.2409+73G=
NM_033150.2:c.2202+73G= NP_149162.2:n.2202+73G=
XM_006719242.2:c.2553+73G= XP_006719305.2:n.2553+73G=
XM_011537928.1:c.2553+73G= XP_011536230.1:n.2553+73G=
XM_011537929.1:c.2553+73G= XP_011536231.1:n.2553+73G=
XM_011537930.1:c.2553+73G= XP_011536232.1:n.2553+73G=
XM_011537931.1:c.2553+73G= XP_011536233.1:n.2553+73G=
XM_011537932.1:c.2553+73G= XP_011536234.1:n.2553+73G=
XM_011537933.1:c.2553+73G= XP_011536235.1:n.2553+73G=
XM_011537934.1:c.2550+73G= XP_011536236.1:n.2550+73G=
XM_011537935.1:c.1497+73G= XP_011536237.1:n.1497+73G=
XR_944910.1:n.208+277C=
XM_017018828.1:c.2553+73G= XP_016874317.1:n.2553+73G=
XM_017018829.1:c.2550+73G= XP_016874318.1:n.2550+73G=
XM_017018830.1:c.2343+73G= XP_016874319.1:n.2343+73G=
XM_017018831.2:c.1863+73G= XP_016874320.1:n.1863+73G=
NM_001844.5:c.2409+73G= MANE Select NP_001835.3:n.2409+73G=
NM_033150.3:c.2202+73G= NP_149162.2:n.2202+73G=