Canonical Allele Identifier: CA250680
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17371
ClinVar RCV Id: RCV000018915
dbSNP Id: rs121912878

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47978389C>T , CM000674.2:g.47978389C>T GRCh38
NC_000012.11:g.48372172C>T , CM000674.1:g.48372172C>T GRCh37
NC_000012.10:g.46658439C>T NCBI36
NG_008072.1:g.31114G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.2698G>A ENSP00000338213.6:p.Gly900Ser
ENST00000380518.8:c.2905G>A MANE Select ENSP00000369889.3:p.Gly969Ser
ENST00000337299.6:c.2698G>A ENSP00000338213.6:p.Gly900Ser
ENST00000380518.7:c.2905G>A ENSP00000369889.3:p.Gly969Ser
ENST00000493991.5:n.1991G>A
NM_001844.4:c.2905G>A NP_001835.3:p.Gly969Ser
NM_033150.2:c.2698G>A NP_149162.2:p.Gly900Ser
XM_006719242.2:c.3049G>A XP_006719305.2:p.Gly1017Ser
XM_011537928.1:c.3049G>A XP_011536230.1:p.Gly1017Ser
XM_011537929.1:c.3049G>A XP_011536231.1:p.Gly1017Ser
XM_011537930.1:c.3049G>A XP_011536232.1:p.Gly1017Ser
XM_011537931.1:c.3049G>A XP_011536233.1:p.Gly1017Ser
XM_011537932.1:c.3049G>A XP_011536234.1:p.Gly1017Ser
XM_011537933.1:c.3049G>A XP_011536235.1:p.Gly1017Ser
XM_011537934.1:c.3046G>A XP_011536236.1:p.Gly1016Ser
XM_011537935.1:c.1993G>A XP_011536237.1:p.Gly665Ser
XM_017018828.1:c.3049G>A XP_016874317.1:p.Gly1017Ser
XM_017018829.1:c.3046G>A XP_016874318.1:p.Gly1016Ser
XM_017018830.1:c.2839G>A XP_016874319.1:p.Gly947Ser
XM_017018831.2:c.2359G>A XP_016874320.1:p.Gly787Ser
NM_001844.5:c.2905G>A MANE Select NP_001835.3:p.Gly969Ser
NM_033150.3:c.2698G>A NP_149162.2:p.Gly900Ser