Canonical Allele Identifier: CA10606903

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 290774
• ClinVar RCV Id: RCV000489443 ; RCV000622408 ; RCV003987496
• dbSNP Id: rs886044555
• MyVariant Identifiers: chr12:g.48379555C>T (hg19) ; chr12:g.47985772C>T (hg38)
• PubMed: PMID:1971141 ; PMID:9724608 ; PMID:10353778 ; PMID:12848929 ; PMID:12925722 ; PMID:20179744 ; PMID:20513134 ; PMID:22791362 ; PMID:25604898 ; PMID:26250472 ; PMID:26345137 ; PMID:26358419 ; PMID:26626311

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985772C>T , CM000674.2:g.47985772C>T	GRCh38
NC_000012.11:g.48379555C>T , CM000674.1:g.48379555C>T	GRCh37
NC_000012.10:g.46665822C>T	NCBI36
NG_008072.1:g.23731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1429G>A	ENSP00000338213.6:p.Gly477Ser
ENST00000380518.8:c.1636G>A MANE Select	ENSP00000369889.3:p.Gly546Ser
ENST00000337299.6:c.1429G>A	ENSP00000338213.6:p.Gly477Ser
ENST00000380518.7:c.1636G>A	ENSP00000369889.3:p.Gly546Ser
ENST00000493991.5:n.560G>A
NM_001844.4:c.1636G>A	NP_001835.3:p.Gly546Ser
NM_033150.2:c.1429G>A	NP_149162.2:p.Gly477Ser
XM_006719242.2:c.1780G>A	XP_006719305.2:p.Gly594Ser
XM_011537928.1:c.1780G>A	XP_011536230.1:p.Gly594Ser
XM_011537929.1:c.1780G>A	XP_011536231.1:p.Gly594Ser
XM_011537930.1:c.1780G>A	XP_011536232.1:p.Gly594Ser
XM_011537931.1:c.1780G>A	XP_011536233.1:p.Gly594Ser
XM_011537932.1:c.1780G>A	XP_011536234.1:p.Gly594Ser
XM_011537933.1:c.1780G>A	XP_011536235.1:p.Gly594Ser
XM_011537934.1:c.1777G>A	XP_011536236.1:p.Gly593Ser
XM_011537935.1:c.724G>A	XP_011536237.1:p.Gly242Ser
XM_017018828.1:c.1780G>A	XP_016874317.1:p.Gly594Ser
XM_017018829.1:c.1777G>A	XP_016874318.1:p.Gly593Ser
XM_017018830.1:c.1570G>A	XP_016874319.1:p.Gly524Ser
XM_017018831.2:c.1090G>A	XP_016874320.1:p.Gly364Ser
NM_001844.5:c.1636G>A MANE Select	NP_001835.3:p.Gly546Ser
NM_033150.3:c.1429G>A	NP_149162.2:p.Gly477Ser