Canonical Allele Identifier: CA384555326

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48383039G>C (hg19) ; chr12:g.47989256G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47989256G>C , CM000674.2:g.47989256G>C	GRCh38
NC_000012.11:g.48383039G>C , CM000674.1:g.48383039G>C	GRCh37
NC_000012.10:g.46669306G>C	NCBI36
NG_008072.1:g.20247C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.887C>G	ENSP00000338213.6:p.Pro296Arg
ENST00000380518.8:c.1094C>G MANE Select	ENSP00000369889.3:p.Pro365Arg
ENST00000337299.6:c.887C>G	ENSP00000338213.6:p.Pro296Arg
ENST00000380518.7:c.1094C>G	ENSP00000369889.3:p.Pro365Arg
NM_001844.4:c.1094C>G	NP_001835.3:p.Pro365Arg
NM_033150.2:c.887C>G	NP_149162.2:p.Pro296Arg
XM_006719242.2:c.1238C>G	XP_006719305.2:p.Pro413Arg
XM_011537928.1:c.1238C>G	XP_011536230.1:p.Pro413Arg
XM_011537929.1:c.1238C>G	XP_011536231.1:p.Pro413Arg
XM_011537930.1:c.1238C>G	XP_011536232.1:p.Pro413Arg
XM_011537931.1:c.1238C>G	XP_011536233.1:p.Pro413Arg
XM_011537932.1:c.1238C>G	XP_011536234.1:p.Pro413Arg
XM_011537933.1:c.1238C>G	XP_011536235.1:p.Pro413Arg
XM_011537934.1:c.1235C>G	XP_011536236.1:p.Pro412Arg
XM_017018828.1:c.1238C>G	XP_016874317.1:p.Pro413Arg
XM_017018829.1:c.1235C>G	XP_016874318.1:p.Pro412Arg
XM_017018830.1:c.1028C>G	XP_016874319.1:p.Pro343Arg
XM_017018831.2:c.548C>G	XP_016874320.1:p.Pro183Arg
NM_001844.5:c.1094C>G MANE Select	NP_001835.3:p.Pro365Arg
NM_033150.3:c.887C>G	NP_149162.2:p.Pro296Arg