Canonical Allele Identifier: CA479442070

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48389658A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995875A>G , CM000674.2:g.47995875A>G	GRCh38
NC_000012.11:g.48389658A>G , CM000674.1:g.48389658A>G	GRCh37
NC_000012.10:g.46675925A>G	NCBI36
NG_008072.1:g.13628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.447T>C	ENSP00000338213.6:p.Pro149=
ENST00000380518.8:c.654T>C MANE Select	ENSP00000369889.3:p.Pro218=
ENST00000337299.6:c.447T>C	ENSP00000338213.6:p.Pro149=
ENST00000380518.7:c.654T>C	ENSP00000369889.3:p.Pro218=
NM_001844.4:c.654T>C	NP_001835.3:p.Pro218=
NM_033150.2:c.447T>C	NP_149162.2:p.Pro149=
XM_006719242.2:c.798T>C	XP_006719305.2:p.Pro266=
XM_011537928.1:c.798T>C	XP_011536230.1:p.Pro266=
XM_011537929.1:c.798T>C	XP_011536231.1:p.Pro266=
XM_011537930.1:c.798T>C	XP_011536232.1:p.Pro266=
XM_011537931.1:c.798T>C	XP_011536233.1:p.Pro266=
XM_011537932.1:c.798T>C	XP_011536234.1:p.Pro266=
XM_011537933.1:c.798T>C	XP_011536235.1:p.Pro266=
XM_011537934.1:c.795T>C	XP_011536236.1:p.Pro265=
XM_017018828.1:c.798T>C	XP_016874317.1:p.Pro266=
XM_017018829.1:c.795T>C	XP_016874318.1:p.Pro265=
XM_017018830.1:c.588T>C	XP_016874319.1:p.Pro196=
XM_017018831.2:c.108T>C	XP_016874320.1:p.Pro36=
NM_001844.5:c.654T>C MANE Select	NP_001835.3:p.Pro218=
NM_033150.3:c.447T>C	NP_149162.2:p.Pro149=