Canonical Allele Identifier: CA479459268

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48375580T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981797T>A , CM000674.2:g.47981797T>A	GRCh38
NC_000012.11:g.48375580T>A , CM000674.1:g.48375580T>A	GRCh37
NC_000012.10:g.46661847T>A	NCBI36
NG_008072.1:g.27706A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2181A>T	ENSP00000338213.6:p.Pro727=
ENST00000380518.8:c.2388A>T MANE Select	ENSP00000369889.3:p.Pro796=
ENST00000337299.6:c.2181A>T	ENSP00000338213.6:p.Pro727=
ENST00000380518.7:c.2388A>T	ENSP00000369889.3:p.Pro796=
ENST00000483376.1:n.566A>T
ENST00000493991.5:n.1474A>T
NM_001844.4:c.2388A>T	NP_001835.3:p.Pro796=
NM_033150.2:c.2181A>T	NP_149162.2:p.Pro727=
XM_006719242.2:c.2532A>T	XP_006719305.2:p.Pro844=
XM_011537928.1:c.2532A>T	XP_011536230.1:p.Pro844=
XM_011537929.1:c.2532A>T	XP_011536231.1:p.Pro844=
XM_011537930.1:c.2532A>T	XP_011536232.1:p.Pro844=
XM_011537931.1:c.2532A>T	XP_011536233.1:p.Pro844=
XM_011537932.1:c.2532A>T	XP_011536234.1:p.Pro844=
XM_011537933.1:c.2532A>T	XP_011536235.1:p.Pro844=
XM_011537934.1:c.2529A>T	XP_011536236.1:p.Pro843=
XM_011537935.1:c.1476A>T	XP_011536237.1:p.Pro492=
XR_944910.1:n.208+371T>A
XM_017018828.1:c.2532A>T	XP_016874317.1:p.Pro844=
XM_017018829.1:c.2529A>T	XP_016874318.1:p.Pro843=
XM_017018830.1:c.2322A>T	XP_016874319.1:p.Pro774=
XM_017018831.2:c.1842A>T	XP_016874320.1:p.Pro614=
NM_001844.5:c.2388A>T MANE Select	NP_001835.3:p.Pro796=
NM_033150.3:c.2181A>T	NP_149162.2:p.Pro727=