Canonical Allele Identifier: CA384555283
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426498
dbSNP Id: rs1085307657

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47989245C>G , CM000674.2:g.47989245C>G GRCh38
NC_000012.11:g.48383028C>G , CM000674.1:g.48383028C>G GRCh37
NC_000012.10:g.46669295C>G NCBI36
NG_008072.1:g.20258G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.898G>C ENSP00000338213.6:p.Gly300Arg
ENST00000380518.8:c.1105G>C MANE Select ENSP00000369889.3:p.Gly369Arg
ENST00000337299.6:c.898G>C ENSP00000338213.6:p.Gly300Arg
ENST00000380518.7:c.1105G>C ENSP00000369889.3:p.Gly369Arg
NM_001844.4:c.1105G>C NP_001835.3:p.Gly369Arg
NM_033150.2:c.898G>C NP_149162.2:p.Gly300Arg
XM_006719242.2:c.1249G>C XP_006719305.2:p.Gly417Arg
XM_011537928.1:c.1249G>C XP_011536230.1:p.Gly417Arg
XM_011537929.1:c.1249G>C XP_011536231.1:p.Gly417Arg
XM_011537930.1:c.1249G>C XP_011536232.1:p.Gly417Arg
XM_011537931.1:c.1249G>C XP_011536233.1:p.Gly417Arg
XM_011537932.1:c.1249G>C XP_011536234.1:p.Gly417Arg
XM_011537933.1:c.1249G>C XP_011536235.1:p.Gly417Arg
XM_011537934.1:c.1246G>C XP_011536236.1:p.Gly416Arg
XM_017018828.1:c.1249G>C XP_016874317.1:p.Gly417Arg
XM_017018829.1:c.1246G>C XP_016874318.1:p.Gly416Arg
XM_017018830.1:c.1039G>C XP_016874319.1:p.Gly347Arg
XM_017018831.2:c.559G>C XP_016874320.1:p.Gly187Arg
NM_001844.5:c.1105G>C MANE Select NP_001835.3:p.Gly369Arg
NM_033150.3:c.898G>C NP_149162.2:p.Gly300Arg