Canonical Allele Identifier: CA6534930
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283607
dbSNP Id: rs200403247

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47978282C>T , CM000674.2:g.47978282C>T GRCh38
NC_000012.11:g.48372065C>T , CM000674.1:g.48372065C>T GRCh37
NC_000012.10:g.46658332C>T NCBI36
NG_008072.1:g.31221G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.2796+9G>A ENSP00000338213.6:p.=
ENST00000380518.8:c.3003+9G>A MANE Select ENSP00000369889.3:p.=
ENST00000337299.6:n.2796+9G>A ENSP00000338213.6:p.=
ENST00000380518.7:c.3003+9G>A ENSP00000369889.3:p.=
ENST00000493991.5:n.2089+9G>A
NM_001844.4:c.3003+9G>A NP_001835.3:p.=
NM_033150.2:c.2796+9G>A NP_149162.2:p.=
XM_006719242.2:c.3147+9G>A XP_006719305.2:p.=
XM_011537928.1:c.3147+9G>A XP_011536230.1:p.=
XM_011537929.1:c.3147+9G>A XP_011536231.1:p.=
XM_011537930.1:c.3147+9G>A XP_011536232.1:p.=
XM_011537931.1:c.3147+9G>A XP_011536233.1:p.=
XM_011537932.1:c.3147+9G>A XP_011536234.1:p.=
XM_011537933.1:c.3147+9G>A XP_011536235.1:p.=
XM_011537934.1:c.3144+9G>A XP_011536236.1:p.=
XM_011537935.1:c.2091+9G>A XP_011536237.1:p.=
XM_017018828.1:c.3147+9G>A XP_016874317.1:p.=
XM_017018829.1:c.3144+9G>A XP_016874318.1:p.=
XM_017018830.1:c.2937+9G>A XP_016874319.1:p.=
XM_017018831.2:c.2457+9G>A XP_016874320.1:p.=
NM_001844.5:c.3003+9G>A MANE Select NP_001835.3:p.=
NM_033150.3:c.2796+9G>A NP_149162.2:p.=