Canonical Allele Identifier: CA250704

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 17403
• ClinVar RCV Id: RCV000022483
• dbSNP Id: rs121912899
• MyVariant Identifiers: chr12:g.48379554C>A (hg19) ; chr12:g.47985771C>A (hg38)
• PubMed: PMID:17994563

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985771C>A , CM000674.2:g.47985771C>A	GRCh38
NC_000012.11:g.48379554C>A , CM000674.1:g.48379554C>A	GRCh37
NC_000012.10:g.46665821C>A	NCBI36
NG_008072.1:g.23732G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1430G>T	ENSP00000338213.6:p.Gly477Val
ENST00000380518.8:c.1637G>T MANE Select	ENSP00000369889.3:p.Gly546Val
ENST00000337299.6:c.1430G>T	ENSP00000338213.6:p.Gly477Val
ENST00000380518.7:c.1637G>T	ENSP00000369889.3:p.Gly546Val
ENST00000493991.5:n.561G>T
NM_001844.4:c.1637G>T	NP_001835.3:p.Gly546Val
NM_033150.2:c.1430G>T	NP_149162.2:p.Gly477Val
XM_006719242.2:c.1781G>T	XP_006719305.2:p.Gly594Val
XM_011537928.1:c.1781G>T	XP_011536230.1:p.Gly594Val
XM_011537929.1:c.1781G>T	XP_011536231.1:p.Gly594Val
XM_011537930.1:c.1781G>T	XP_011536232.1:p.Gly594Val
XM_011537931.1:c.1781G>T	XP_011536233.1:p.Gly594Val
XM_011537932.1:c.1781G>T	XP_011536234.1:p.Gly594Val
XM_011537933.1:c.1781G>T	XP_011536235.1:p.Gly594Val
XM_011537934.1:c.1778G>T	XP_011536236.1:p.Gly593Val
XM_011537935.1:c.725G>T	XP_011536237.1:p.Gly242Val
XM_017018828.1:c.1781G>T	XP_016874317.1:p.Gly594Val
XM_017018829.1:c.1778G>T	XP_016874318.1:p.Gly593Val
XM_017018830.1:c.1571G>T	XP_016874319.1:p.Gly524Val
XM_017018831.2:c.1091G>T	XP_016874320.1:p.Gly364Val
NM_001844.5:c.1637G>T MANE Select	NP_001835.3:p.Gly546Val
NM_033150.3:c.1430G>T	NP_149162.2:p.Gly477Val