Canonical Allele Identifier: CA6535431
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 308925
dbSNP Id: rs756360655

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47985749T>C , CM000674.2:g.47985749T>C GRCh38
NC_000012.11:g.48379532T>C , CM000674.1:g.48379532T>C GRCh37
NC_000012.10:g.46665799T>C NCBI36
NG_008072.1:g.23754A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.1452A>G ENSP00000338213.6:p.Glu484=
ENST00000380518.8:c.1659A>G MANE Select ENSP00000369889.3:p.Glu553=
ENST00000337299.6:c.1452A>G ENSP00000338213.6:p.Glu484=
ENST00000380518.7:c.1659A>G ENSP00000369889.3:p.Glu553=
ENST00000493991.5:n.583A>G
NM_001844.4:c.1659A>G NP_001835.3:p.Glu553=
NM_033150.2:c.1452A>G NP_149162.2:p.Glu484=
XM_006719242.2:c.1803A>G XP_006719305.2:p.Glu601=
XM_011537928.1:c.1803A>G XP_011536230.1:p.Glu601=
XM_011537929.1:c.1803A>G XP_011536231.1:p.Glu601=
XM_011537930.1:c.1803A>G XP_011536232.1:p.Glu601=
XM_011537931.1:c.1803A>G XP_011536233.1:p.Glu601=
XM_011537932.1:c.1803A>G XP_011536234.1:p.Glu601=
XM_011537933.1:c.1803A>G XP_011536235.1:p.Glu601=
XM_011537934.1:c.1800A>G XP_011536236.1:p.Glu600=
XM_011537935.1:c.747A>G XP_011536237.1:p.Glu249=
XM_017018828.1:c.1803A>G XP_016874317.1:p.Glu601=
XM_017018829.1:c.1800A>G XP_016874318.1:p.Glu600=
XM_017018830.1:c.1593A>G XP_016874319.1:p.Glu531=
XM_017018831.2:c.1113A>G XP_016874320.1:p.Glu371=
NM_001844.5:c.1659A>G MANE Select NP_001835.3:p.Glu553=
NM_033150.3:c.1452A>G NP_149162.2:p.Glu484=