Canonical Allele Identifier: CA2573148632

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1409446
• ClinVar RCV Id: RCV001939823
• dbSNP Id: rs2136526175
• gnomAD v4: 12-47978292-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978293_47978294del , CM000674.2:g.47978293_47978294del	GRCh38
NC_000012.11:g.48372076_48372077del , CM000674.1:g.48372076_48372077del	GRCh37
NC_000012.10:g.46658343_46658344del	NCBI36
NG_008072.1:g.31209_31210del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2793_2794del	ENSP00000338213.6:p.Ser932GlyfsTer2
ENST00000380518.8:c.3000_3001del MANE Select	ENSP00000369889.3:p.Ser1001GlyfsTer2
ENST00000337299.6:c.2793_2794del	ENSP00000338213.6:p.Ser932GlyfsTer2
ENST00000380518.7:c.3000_3001del	ENSP00000369889.3:p.Ser1001GlyfsTer2
ENST00000493991.5:n.2086_2087del
NM_001844.4:c.3000_3001del	NP_001835.3:p.Ser1001GlyfsTer2
NM_033150.2:c.2793_2794del	NP_149162.2:p.Ser932GlyfsTer2
XM_006719242.2:c.3144_3145del	XP_006719305.2:p.Ser1049GlyfsTer2
XM_011537928.1:c.3144_3145del	XP_011536230.1:p.Ser1049GlyfsTer2
XM_011537929.1:c.3144_3145del	XP_011536231.1:p.Ser1049GlyfsTer2
XM_011537930.1:c.3144_3145del	XP_011536232.1:p.Ser1049GlyfsTer2
XM_011537931.1:c.3144_3145del	XP_011536233.1:p.Ser1049GlyfsTer2
XM_011537932.1:c.3144_3145del	XP_011536234.1:p.Ser1049GlyfsTer2
XM_011537933.1:c.3144_3145del	XP_011536235.1:p.Ser1049GlyfsTer2
XM_011537934.1:c.3141_3142del	XP_011536236.1:p.Ser1048GlyfsTer2
XM_011537935.1:c.2088_2089del	XP_011536237.1:p.Ser697GlyfsTer2
XM_017018828.1:c.3144_3145del	XP_016874317.1:p.Ser1049GlyfsTer2
XM_017018829.1:c.3141_3142del	XP_016874318.1:p.Ser1048GlyfsTer2
XM_017018830.1:c.2934_2935del	XP_016874319.1:p.Ser979GlyfsTer2
XM_017018831.2:c.2454_2455del	XP_016874320.1:p.Ser819GlyfsTer2
NM_001844.5:c.3000_3001del MANE Select	NP_001835.3:p.Ser1001GlyfsTer2
NM_033150.3:c.2793_2794del	NP_149162.2:p.Ser932GlyfsTer2