Canonical Allele Identifier: CA6535669
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 308930
dbSNP Id: rs755043901

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47992897G>C , CM000674.2:g.47992897G>C GRCh38
NC_000012.11:g.48386680G>C , CM000674.1:g.48386680G>C GRCh37
NC_000012.10:g.46672947G>C NCBI36
NG_008072.1:g.16606C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.797C>G ENSP00000338213.6:p.Thr266Ser
ENST00000380518.8:c.1004C>G MANE Select ENSP00000369889.3:p.Thr335Ser
ENST00000337299.6:c.797C>G ENSP00000338213.6:p.Thr266Ser
ENST00000380518.7:c.1004C>G ENSP00000369889.3:p.Thr335Ser
NM_001844.4:c.1004C>G NP_001835.3:p.Thr335Ser
NM_033150.2:c.797C>G NP_149162.2:p.Thr266Ser
XM_006719242.2:c.1148C>G XP_006719305.2:p.Thr383Ser
XM_011537928.1:c.1148C>G XP_011536230.1:p.Thr383Ser
XM_011537929.1:c.1148C>G XP_011536231.1:p.Thr383Ser
XM_011537930.1:c.1148C>G XP_011536232.1:p.Thr383Ser
XM_011537931.1:c.1148C>G XP_011536233.1:p.Thr383Ser
XM_011537932.1:c.1148C>G XP_011536234.1:p.Thr383Ser
XM_011537933.1:c.1148C>G XP_011536235.1:p.Thr383Ser
XM_011537934.1:c.1145C>G XP_011536236.1:p.Thr382Ser
XM_017018828.1:c.1148C>G XP_016874317.1:p.Thr383Ser
XM_017018829.1:c.1145C>G XP_016874318.1:p.Thr382Ser
XM_017018830.1:c.938C>G XP_016874319.1:p.Thr313Ser
XM_017018831.2:c.458C>G XP_016874320.1:p.Thr153Ser
NM_001844.5:c.1004C>G MANE Select NP_001835.3:p.Thr335Ser
NM_033150.3:c.797C>G NP_149162.2:p.Thr266Ser