Canonical Allele Identifier: CA2575138679

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 17386
• ClinVar RCV Id: RCV000018929
• dbSNP Id: rs2136637244

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48000041_48000042del , CM000674.2:g.48000041_48000042del	GRCh38
NC_000012.11:g.48393824_48393825del , CM000674.1:g.48393824_48393825del	GRCh37
NC_000012.10:g.46680091_46680092del	NCBI36
NG_008072.1:g.9463_9464del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.86-1609_86-1608del	ENSP00000338213.6:n.86-1609_86-1608del
ENST00000380518.8:c.171_172del MANE Select	ENSP00000369889.3:p.Cys57Ter
ENST00000490609.2:n.404_405del
ENST00000337299.6:c.86-1609_86-1608del	ENSP00000338213.6:n.86-1609_86-1608del
ENST00000380518.7:c.171_172del	ENSP00000369889.3:p.Cys57Ter
ENST00000474996.6:n.409_410del
ENST00000490609.1:n.336_337del
NM_001844.4:c.171_172del	NP_001835.3:p.Cys57Ter
NM_033150.2:c.86-1609_86-1608del	NP_149162.2:n.86-1609_86-1608del
XM_006719242.2:c.312_313del	XP_006719305.2:p.Cys104Ter
XM_011537928.1:c.312_313del	XP_011536230.1:p.Cys104Ter
XM_011537929.1:c.312_313del	XP_011536231.1:p.Cys104Ter
XM_011537930.1:c.312_313del	XP_011536232.1:p.Cys104Ter
XM_011537931.1:c.312_313del	XP_011536233.1:p.Cys104Ter
XM_011537932.1:c.312_313del	XP_011536234.1:p.Cys104Ter
XM_011537933.1:c.312_313del	XP_011536235.1:p.Cys104Ter
XM_011537934.1:c.312_313del	XP_011536236.1:p.Cys104Ter
XM_017018828.1:c.312_313del	XP_016874317.1:p.Cys104Ter
XM_017018829.1:c.312_313del	XP_016874318.1:p.Cys104Ter
XM_017018830.1:c.227-1609_227-1608del	XP_016874319.1:n.227-1609_227-1608del
XM_017018831.2:c.-376_-375del	XP_016874320.1:n.-376_-375del
NM_001844.5:c.171_172del MANE Select	NP_001835.3:p.Cys57Ter
NM_033150.3:c.86-1609_86-1608del	NP_149162.2:n.86-1609_86-1608del