Canonical Allele Identifier: CA2795862966

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985891_47985892insCCCTCTTCTCTCTCCTGAACAAAGGGTCTCACTGGCCGCCCTGGTGATGCTGGGAGGGACCCCA , CM000674.2:g.47985891_47985892insCCCTCTTCTCTCTCCTGAACAAAGGGTCTCACTGGCCGCCCTGGTGATGCTGGGAGGGACCCCA	GRCh38
NC_000012.11:g.48379674_48379675insCCCTCTTCTCTCTCCTGAACAAAGGGTCTCACTGGCCGCCCTGGTGATGCTGGGAGGGACCCCA , CM000674.1:g.48379674_48379675insCCCTCTTCTCTCTCCTGAACAAAGGGTCTCACTGGCCGCCCTGGTGATGCTGGGAGGGACCCCA	GRCh37
NC_000012.10:g.46665941_46665942insCCCTCTTCTCTCTCCTGAACAAAGGGTCTCACTGGCCGCCCTGGTGATGCTGGGAGGGACCCCA	NCBI36
NG_008072.1:g.23624_23625insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1374+33_1374+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	ENSP00000338213.6:n.1374+33_1374+34insAGCATCACCAGGGCGGCCAGTGA...
ENST00000380518.8:c.1581+33_1581+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC MANE Select	ENSP00000369889.3:n.1581+33_1581+34insAGCATCACCAGGGCGGCCAGTGA...
ENST00000337299.6:c.1374+33_1374+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	ENSP00000338213.6:n.1374+33_1374+34insAGCATCACCAGGGCGGCCAGTGA...
ENST00000380518.7:c.1581+33_1581+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	ENSP00000369889.3:n.1581+33_1581+34insAGCATCACCAGGGCGGCCAGTGA...
ENST00000493991.5:n.505+33_505+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC
NM_001844.4:c.1581+33_1581+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	NP_001835.3:n.1581+33_1581+34insAGCATCACCAGGGCGGCCAGTGAGACCCT...
NM_033150.2:c.1374+33_1374+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	NP_149162.2:n.1374+33_1374+34insAGCATCACCAGGGCGGCCAGTGAGACCCT...
XM_006719242.2:c.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_006719305.2:n.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGAC...
XM_011537928.1:c.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_011536230.1:n.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGAC...
XM_011537929.1:c.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_011536231.1:n.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGAC...
XM_011537930.1:c.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_011536232.1:n.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGAC...
XM_011537931.1:c.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_011536233.1:n.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGAC...
XM_011537932.1:c.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_011536234.1:n.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGAC...
XM_011537933.1:c.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_011536235.1:n.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGAC...
XM_011537934.1:c.1722+33_1722+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_011536236.1:n.1722+33_1722+34insAGCATCACCAGGGCGGCCAGTGAGAC...
XM_011537935.1:c.669+33_669+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_011536237.1:n.669+33_669+34insAGCATCACCAGGGCGGCCAGTGAGACCC...
XM_017018828.1:c.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_016874317.1:n.1725+33_1725+34insAGCATCACCAGGGCGGCCAGTGAGAC...
XM_017018829.1:c.1722+33_1722+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_016874318.1:n.1722+33_1722+34insAGCATCACCAGGGCGGCCAGTGAGAC...
XM_017018830.1:c.1515+33_1515+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_016874319.1:n.1515+33_1515+34insAGCATCACCAGGGCGGCCAGTGAGAC...
XM_017018831.2:c.1035+33_1035+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	XP_016874320.1:n.1035+33_1035+34insAGCATCACCAGGGCGGCCAGTGAGAC...
NM_001844.5:c.1581+33_1581+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC MANE Select	NP_001835.3:n.1581+33_1581+34insAGCATCACCAGGGCGGCCAGTGAGACCCT...
NM_033150.3:c.1374+33_1374+34insAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCCCTCCC	NP_149162.2:n.1374+33_1374+34insAGCATCACCAGGGCGGCCAGTGAGACCCT...