Canonical Allele Identifier: CA2573148624

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1452895
• ClinVar RCV Id: RCV002037782
• dbSNP Id: rs2136522956

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977644del , CM000674.2:g.47977644del	GRCh38
NC_000012.11:g.48371427del , CM000674.1:g.48371427del	GRCh37
NC_000012.10:g.46657694del	NCBI36
NG_008072.1:g.31860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2915del	ENSP00000338213.6:p.Gly972ValfsTer?
ENST00000380518.8:c.3122del MANE Select	ENSP00000369889.3:p.Gly1041ValfsTer?
ENST00000337299.6:c.2915del	ENSP00000338213.6:p.Gly972ValfsTer?
ENST00000380518.7:c.3122del	ENSP00000369889.3:p.Gly1041ValfsTer?
ENST00000493991.5:n.2208del
NM_001844.4:c.3122del	NP_001835.3:p.Gly1041ValfsTer?
NM_033150.2:c.2915del	NP_149162.2:p.Gly972ValfsTer?
XM_006719242.2:c.3266del	XP_006719305.2:p.Gly1089ValfsTer?
XM_011537928.1:c.3266del	XP_011536230.1:p.Gly1089ValfsTer?
XM_011537929.1:c.3266del	XP_011536231.1:p.Gly1089ValfsTer?
XM_011537930.1:c.3266del	XP_011536232.1:p.Gly1089ValfsTer?
XM_011537931.1:c.3266del	XP_011536233.1:p.Gly1089ValfsTer?
XM_011537932.1:c.3266del	XP_011536234.1:p.Gly1089ValfsTer?
XM_011537933.1:c.3266del	XP_011536235.1:p.Gly1089ValfsTer?
XM_011537934.1:c.3263del	XP_011536236.1:p.Gly1088ValfsTer?
XM_011537935.1:c.2210del	XP_011536237.1:p.Gly737ValfsTer?
XM_017018828.1:c.3266del	XP_016874317.1:p.Gly1089ValfsTer?
XM_017018829.1:c.3263del	XP_016874318.1:p.Gly1088ValfsTer?
XM_017018830.1:c.3056del	XP_016874319.1:p.Gly1019ValfsTer?
XM_017018831.2:c.2576del	XP_016874320.1:p.Gly859ValfsTer?
NM_001844.5:c.3122del MANE Select	NP_001835.3:p.Gly1041ValfsTer?
NM_033150.3:c.2915del	NP_149162.2:p.Gly972ValfsTer?