Canonical Allele Identifier: CA384521840

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1479399
• ClinVar RCV Id: RCV001976754
• dbSNP Id: rs2136608011
• COSMIC: COSM5886768 ; COSM5886769
• MyVariant Identifiers: chr12:g.48387284C>T (hg19) ; chr12:g.47993501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47993501C>T , CM000674.2:g.47993501C>T	GRCh38
NC_000012.11:g.48387284C>T , CM000674.1:g.48387284C>T	GRCh37
NC_000012.10:g.46673551C>T	NCBI36
NG_008072.1:g.16002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.719G>A	ENSP00000338213.6:p.Gly240Asp
ENST00000380518.8:c.926G>A MANE Select	ENSP00000369889.3:p.Gly309Asp
ENST00000337299.6:c.719G>A	ENSP00000338213.6:p.Gly240Asp
ENST00000380518.7:c.926G>A	ENSP00000369889.3:p.Gly309Asp
NM_001844.4:c.926G>A	NP_001835.3:p.Gly309Asp
NM_033150.2:c.719G>A	NP_149162.2:p.Gly240Asp
XM_006719242.2:c.1070G>A	XP_006719305.2:p.Gly357Asp
XM_011537928.1:c.1070G>A	XP_011536230.1:p.Gly357Asp
XM_011537929.1:c.1070G>A	XP_011536231.1:p.Gly357Asp
XM_011537930.1:c.1070G>A	XP_011536232.1:p.Gly357Asp
XM_011537931.1:c.1070G>A	XP_011536233.1:p.Gly357Asp
XM_011537932.1:c.1070G>A	XP_011536234.1:p.Gly357Asp
XM_011537933.1:c.1070G>A	XP_011536235.1:p.Gly357Asp
XM_011537934.1:c.1067G>A	XP_011536236.1:p.Gly356Asp
XM_017018828.1:c.1070G>A	XP_016874317.1:p.Gly357Asp
XM_017018829.1:c.1067G>A	XP_016874318.1:p.Gly356Asp
XM_017018830.1:c.860G>A	XP_016874319.1:p.Gly287Asp
XM_017018831.2:c.380G>A	XP_016874320.1:p.Gly127Asp
NM_001844.5:c.926G>A MANE Select	NP_001835.3:p.Gly309Asp
NM_033150.3:c.719G>A	NP_149162.2:p.Gly240Asp