Canonical Allele Identifier: CA281465
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 162041
ClinVar RCV Id: RCV000149458
dbSNP Id: rs672601355

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47987634_47987642dup , CM000674.2:g.47987634_47987642dup GRCh38
NC_000012.11:g.48381417_48381425dup , CM000674.1:g.48381417_48381425dup GRCh37
NC_000012.10:g.46667684_46667692dup NCBI36
NG_008072.1:g.21862_21870dup

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.984_992dup ENSP00000338213.6:p.Ser331_Pro332insProGl...
ENST00000380518.8:c.1191_1199dup MANE Select ENSP00000369889.3:p.Ser400_Pro401insProGl...
ENST00000337299.6:c.984_992dup ENSP00000338213.6:p.Ser331_Pro332insProGl...
ENST00000380518.7:c.1191_1199dup ENSP00000369889.3:p.Ser400_Pro401insProGl...
ENST00000493991.5:n.115_123dup
NM_001844.4:c.1191_1199dup NP_001835.3:p.Ser400_Pro401insProGlySer
NM_033150.2:c.984_992dup NP_149162.2:p.Ser331_Pro332insProGlySer
XM_006719242.2:c.1335_1343dup XP_006719305.2:p.Ser448_Pro449insProGlySe...
XM_011537928.1:c.1335_1343dup XP_011536230.1:p.Ser448_Pro449insProGlySe...
XM_011537929.1:c.1335_1343dup XP_011536231.1:p.Ser448_Pro449insProGlySe...
XM_011537930.1:c.1335_1343dup XP_011536232.1:p.Ser448_Pro449insProGlySe...
XM_011537931.1:c.1335_1343dup XP_011536233.1:p.Ser448_Pro449insProGlySe...
XM_011537932.1:c.1335_1343dup XP_011536234.1:p.Ser448_Pro449insProGlySe...
XM_011537933.1:c.1335_1343dup XP_011536235.1:p.Ser448_Pro449insProGlySe...
XM_011537934.1:c.1332_1340dup XP_011536236.1:p.Ser447_Pro448insProGlySe...
XM_011537935.1:c.279_287dup XP_011536237.1:p.Ser96_Pro97insProGlySer
XM_017018828.1:c.1335_1343dup XP_016874317.1:p.Ser448_Pro449insProGlySe...
XM_017018829.1:c.1332_1340dup XP_016874318.1:p.Ser447_Pro448insProGlySe...
XM_017018830.1:c.1125_1133dup XP_016874319.1:p.Ser378_Pro379insProGlySe...
XM_017018831.2:c.645_653dup XP_016874320.1:p.Ser218_Pro219insProGlySe...
NM_001844.5:c.1191_1199dup MANE Select NP_001835.3:p.Ser400_Pro401insProGlySer
NM_033150.3:c.984_992dup NP_149162.2:p.Ser331_Pro332insProGlySer