Canonical Allele Identifier: CA384533262

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2708952
• ClinVar RCV Id: RCV003547754
• MyVariant Identifiers: chr12:g.48367284G>C (hg19) ; chr12:g.47973501G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47973501G>C , CM000674.2:g.47973501G>C	GRCh38
NC_000012.11:g.48367284G>C , CM000674.1:g.48367284G>C	GRCh37
NC_000012.10:g.46653551G>C	NCBI36
NG_008072.1:g.36002C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.4163C>G	ENSP00000338213.6:p.Thr1388Ser
ENST00000380518.8:c.4370C>G MANE Select	ENSP00000369889.3:p.Thr1457Ser
ENST00000337299.6:c.4163C>G	ENSP00000338213.6:p.Thr1388Ser
ENST00000380518.7:c.4370C>G	ENSP00000369889.3:p.Thr1457Ser
ENST00000493991.5:n.3456C>G
NM_001844.4:c.4370C>G	NP_001835.3:p.Thr1457Ser
NM_033150.2:c.4163C>G	NP_149162.2:p.Thr1388Ser
XM_006719242.2:c.4514C>G	XP_006719305.2:p.Thr1505Ser
XM_011537928.1:c.4514C>G	XP_011536230.1:p.Thr1505Ser
XM_011537929.1:c.4514C>G	XP_011536231.1:p.Thr1505Ser
XM_011537930.1:c.4514C>G	XP_011536232.1:p.Thr1505Ser
XM_011537931.1:c.4514C>G	XP_011536233.1:p.Thr1505Ser
XM_011537932.1:c.4514C>G	XP_011536234.1:p.Thr1505Ser
XM_011537933.1:c.4514C>G	XP_011536235.1:p.Thr1505Ser
XM_011537934.1:c.4511C>G	XP_011536236.1:p.Thr1504Ser
XM_011537935.1:c.3458C>G	XP_011536237.1:p.Thr1153Ser
XM_017018828.1:c.4514C>G	XP_016874317.1:p.Thr1505Ser
XM_017018829.1:c.4511C>G	XP_016874318.1:p.Thr1504Ser
XM_017018830.1:c.4304C>G	XP_016874319.1:p.Thr1435Ser
XM_017018831.2:c.3824C>G	XP_016874320.1:p.Thr1275Ser
NM_001844.5:c.4370C>G MANE Select	NP_001835.3:p.Thr1457Ser
NM_033150.3:c.4163C>G	NP_149162.2:p.Thr1388Ser