Canonical Allele Identifier: CA479441999

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48389508A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995725A>G , CM000674.2:g.47995725A>G	GRCh38
NC_000012.11:g.48389508A>G , CM000674.1:g.48389508A>G	GRCh37
NC_000012.10:g.46675775A>G	NCBI36
NG_008072.1:g.13778T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.486T>C	ENSP00000338213.6:p.Gly162=
ENST00000380518.8:c.693T>C MANE Select	ENSP00000369889.3:p.Gly231=
ENST00000337299.6:c.486T>C	ENSP00000338213.6:p.Gly162=
ENST00000380518.7:c.693T>C	ENSP00000369889.3:p.Gly231=
NM_001844.4:c.693T>C	NP_001835.3:p.Gly231=
NM_033150.2:c.486T>C	NP_149162.2:p.Gly162=
XM_006719242.2:c.837T>C	XP_006719305.2:p.Gly279=
XM_011537928.1:c.837T>C	XP_011536230.1:p.Gly279=
XM_011537929.1:c.837T>C	XP_011536231.1:p.Gly279=
XM_011537930.1:c.837T>C	XP_011536232.1:p.Gly279=
XM_011537931.1:c.837T>C	XP_011536233.1:p.Gly279=
XM_011537932.1:c.837T>C	XP_011536234.1:p.Gly279=
XM_011537933.1:c.837T>C	XP_011536235.1:p.Gly279=
XM_011537934.1:c.834T>C	XP_011536236.1:p.Gly278=
XM_017018828.1:c.837T>C	XP_016874317.1:p.Gly279=
XM_017018829.1:c.834T>C	XP_016874318.1:p.Gly278=
XM_017018830.1:c.627T>C	XP_016874319.1:p.Gly209=
XM_017018831.2:c.147T>C	XP_016874320.1:p.Gly49=
NM_001844.5:c.693T>C MANE Select	NP_001835.3:p.Gly231=
NM_033150.3:c.486T>C	NP_149162.2:p.Gly162=