Canonical Allele Identifier: CA2034470154
Gene: COL2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1938514368

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47973092_47973093insGCGGT , CM000674.2:g.47973092_47973093insGCGGT GRCh38
NC_000012.11:g.48366875_48366876insGCGGT , CM000674.1:g.48366875_48366876insGCGGT GRCh37
NC_000012.10:g.46653142_46653143insGCGGT NCBI36
NG_008072.1:g.36410_36411insACCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000380518.8:c.*314_*315insACCGC MANE Select ENSP00000369889.3:n.*314_*315insACCGC
ENST00000380518.7:c.*314_*315insACCGC ENSP00000369889.3:n.*314_*315insACCGC
NM_001844.4:c.*314_*315insACCGC NP_001835.3:n.*314_*315insACCGC
NM_033150.2:c.*314_*315insACCGC NP_149162.2:n.*314_*315insACCGC
XM_006719242.2:c.*314_*315insACCGC XP_006719305.2:n.*314_*315insACCGC
XM_011537928.1:c.*314_*315insACCGC XP_011536230.1:n.*314_*315insACCGC
XM_011537929.1:c.*314_*315insACCGC XP_011536231.1:n.*314_*315insACCGC
XM_011537930.1:c.*314_*315insACCGC XP_011536232.1:n.*314_*315insACCGC
XM_011537931.1:c.*314_*315insACCGC XP_011536233.1:n.*314_*315insACCGC
XM_011537932.1:c.*314_*315insACCGC XP_011536234.1:n.*314_*315insACCGC
XM_011537933.1:c.*314_*315insACCGC XP_011536235.1:n.*314_*315insACCGC
XM_011537934.1:c.*314_*315insACCGC XP_011536236.1:n.*314_*315insACCGC
XM_011537935.1:c.*314_*315insACCGC XP_011536237.1:n.*314_*315insACCGC
XM_017018828.1:c.*314_*315insACCGC XP_016874317.1:n.*314_*315insACCGC
XM_017018829.1:c.*314_*315insACCGC XP_016874318.1:n.*314_*315insACCGC
XM_017018830.1:c.*314_*315insACCGC XP_016874319.1:n.*314_*315insACCGC
XM_017018831.2:c.*314_*315insACCGC XP_016874320.1:n.*314_*315insACCGC
NM_001844.5:c.*314_*315insACCGC MANE Select NP_001835.3:n.*314_*315insACCGC
NM_033150.3:c.*314_*315insACCGC NP_149162.2:n.*314_*315insACCGC