Canonical Allele Identifier: CA2573148587

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1687304
• ClinVar RCV Id: RCV002250986
• dbSNP Id: rs2136544726

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981799_47981817del , CM000674.2:g.47981799_47981817del	GRCh38
NC_000012.11:g.48375582_48375600del , CM000674.1:g.48375582_48375600del	GRCh37
NC_000012.10:g.46661849_46661867del	NCBI36
NG_008072.1:g.27687_27705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2162_2180del	ENSP00000338213.6:p.Pro721GlnfsTer?
ENST00000380518.8:c.2369_2387del MANE Select	ENSP00000369889.3:p.Pro790GlnfsTer?
ENST00000337299.6:c.2162_2180del	ENSP00000338213.6:p.Pro721GlnfsTer?
ENST00000380518.7:c.2369_2387del	ENSP00000369889.3:p.Pro790GlnfsTer?
ENST00000483376.1:n.547_565del
ENST00000493991.5:n.1455_1473del
NM_001844.4:c.2369_2387del	NP_001835.3:p.Pro790GlnfsTer?
NM_033150.2:c.2162_2180del	NP_149162.2:p.Pro721GlnfsTer?
XM_006719242.2:c.2513_2531del	XP_006719305.2:p.Pro838GlnfsTer?
XM_011537928.1:c.2513_2531del	XP_011536230.1:p.Pro838GlnfsTer?
XM_011537929.1:c.2513_2531del	XP_011536231.1:p.Pro838GlnfsTer?
XM_011537930.1:c.2513_2531del	XP_011536232.1:p.Pro838GlnfsTer?
XM_011537931.1:c.2513_2531del	XP_011536233.1:p.Pro838GlnfsTer?
XM_011537932.1:c.2513_2531del	XP_011536234.1:p.Pro838GlnfsTer?
XM_011537933.1:c.2513_2531del	XP_011536235.1:p.Pro838GlnfsTer?
XM_011537934.1:c.2510_2528del	XP_011536236.1:p.Pro837GlnfsTer?
XM_011537935.1:c.1457_1475del	XP_011536237.1:p.Pro486GlnfsTer?
XR_944910.1:n.208+373_208+391del
XM_017018828.1:c.2513_2531del	XP_016874317.1:p.Pro838GlnfsTer?
XM_017018829.1:c.2510_2528del	XP_016874318.1:p.Pro837GlnfsTer?
XM_017018830.1:c.2303_2321del	XP_016874319.1:p.Pro768GlnfsTer?
XM_017018831.2:c.1823_1841del	XP_016874320.1:p.Pro608GlnfsTer?
NM_001844.5:c.2369_2387del MANE Select	NP_001835.3:p.Pro790GlnfsTer?
NM_033150.3:c.2162_2180del	NP_149162.2:p.Pro721GlnfsTer?