Canonical Allele Identifier: CA384533541

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48367943A>C (hg19) ; chr12:g.47974160A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974160A>C , CM000674.2:g.47974160A>C	GRCh38
NC_000012.11:g.48367943A>C , CM000674.1:g.48367943A>C	GRCh37
NC_000012.10:g.46654210A>C	NCBI36
NG_008072.1:g.35343T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.4039T>G	ENSP00000338213.6:p.Ser1347Ala
ENST00000380518.8:c.4246T>G MANE Select	ENSP00000369889.3:p.Ser1416Ala
ENST00000337299.6:c.4039T>G	ENSP00000338213.6:p.Ser1347Ala
ENST00000380518.7:c.4246T>G	ENSP00000369889.3:p.Ser1416Ala
ENST00000493991.5:n.3332T>G
NM_001844.4:c.4246T>G	NP_001835.3:p.Ser1416Ala
NM_033150.2:c.4039T>G	NP_149162.2:p.Ser1347Ala
XM_006719242.2:c.4390T>G	XP_006719305.2:p.Ser1464Ala
XM_011537928.1:c.4390T>G	XP_011536230.1:p.Ser1464Ala
XM_011537929.1:c.4390T>G	XP_011536231.1:p.Ser1464Ala
XM_011537930.1:c.4390T>G	XP_011536232.1:p.Ser1464Ala
XM_011537931.1:c.4390T>G	XP_011536233.1:p.Ser1464Ala
XM_011537932.1:c.4390T>G	XP_011536234.1:p.Ser1464Ala
XM_011537933.1:c.4390T>G	XP_011536235.1:p.Ser1464Ala
XM_011537934.1:c.4387T>G	XP_011536236.1:p.Ser1463Ala
XM_011537935.1:c.3334T>G	XP_011536237.1:p.Ser1112Ala
XM_017018828.1:c.4390T>G	XP_016874317.1:p.Ser1464Ala
XM_017018829.1:c.4387T>G	XP_016874318.1:p.Ser1463Ala
XM_017018830.1:c.4180T>G	XP_016874319.1:p.Ser1394Ala
XM_017018831.2:c.3700T>G	XP_016874320.1:p.Ser1234Ala
NM_001844.5:c.4246T>G MANE Select	NP_001835.3:p.Ser1416Ala
NM_033150.3:c.4039T>G	NP_149162.2:p.Ser1347Ala