Canonical Allele Identifier: CA2034476695
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 986266
ClinVar RCV Id: RCV001267581
dbSNP Id: rs1555165335

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47978072_47978073insCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACC , CM000674.2:g.47978072_47978073insCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACC GRCh38
NC_000012.11:g.48371855_48371856insCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACC , CM000674.1:g.48371855_48371856insCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACC GRCh37
NC_000012.10:g.46658122_46658123insCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACC NCBI36
NG_008072.1:g.31461_31462insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.2872_2873insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC ENSP00000338213.6:p.Gly957_Leu958insProValGlyProProGlyProValG...
ENST00000380518.8:c.3079_3080insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC MANE Select ENSP00000369889.3:p.Gly1026_Leu1027insProValGlyProProGlyProVa...
ENST00000337299.6:c.2872_2873insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC ENSP00000338213.6:p.Gly957_Leu958insProValGlyProProGlyProValG...
ENST00000380518.7:c.3079_3080insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC ENSP00000369889.3:p.Gly1026_Leu1027insProValGlyProProGlyProVa...
ENST00000493991.5:n.2165_2166insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC
NM_001844.4:c.3079_3080insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC NP_001835.3:p.Gly1026_Leu1027insProValGlyProProGlyProValGlyPr...
NM_033150.2:c.2872_2873insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC NP_149162.2:p.Gly957_Leu958insProValGlyProProGlyProValGlyProP...
XM_006719242.2:c.3223_3224insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_006719305.2:p.Gly1074_Leu1075insProValGlyProProGlyProValGl...
XM_011537928.1:c.3223_3224insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_011536230.1:p.Gly1074_Leu1075insProValGlyProProGlyProValGl...
XM_011537929.1:c.3223_3224insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_011536231.1:p.Gly1074_Leu1075insProValGlyProProGlyProValGl...
XM_011537930.1:c.3223_3224insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_011536232.1:p.Gly1074_Leu1075insProValGlyProProGlyProValGl...
XM_011537931.1:c.3223_3224insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_011536233.1:p.Gly1074_Leu1075insProValGlyProProGlyProValGl...
XM_011537932.1:c.3223_3224insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_011536234.1:p.Gly1074_Leu1075insProValGlyProProGlyProValGl...
XM_011537933.1:c.3223_3224insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_011536235.1:p.Gly1074_Leu1075insProValGlyProProGlyProValGl...
XM_011537934.1:c.3220_3221insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_011536236.1:p.Gly1073_Leu1074insProValGlyProProGlyProValGl...
XM_011537935.1:c.2167_2168insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_011536237.1:p.Gly722_Leu723insProValGlyProProGlyProValGlyP...
XM_017018828.1:c.3223_3224insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_016874317.1:p.Gly1074_Leu1075insProValGlyProProGlyProValGl...
XM_017018829.1:c.3220_3221insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_016874318.1:p.Gly1073_Leu1074insProValGlyProProGlyProValGl...
XM_017018830.1:c.3013_3014insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_016874319.1:p.Gly1004_Leu1005insProValGlyProProGlyProValGl...
XM_017018831.2:c.2533_2534insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC XP_016874320.1:p.Gly844_Leu845insProValGlyProProGlyProValGlyP...
NM_001844.5:c.3079_3080insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC MANE Select NP_001835.3:p.Gly1026_Leu1027insProValGlyProProGlyProValGlyPr...
NM_033150.3:c.2872_2873insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC NP_149162.2:p.Gly957_Leu958insProValGlyProProGlyProValGlyProP...