Canonical Allele Identifier: CA2618499732
Gene: COL2A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47986037_47986065del , CM000674.2:g.47986037_47986065del GRCh38
NC_000012.11:g.48379820_48379848del , CM000674.1:g.48379820_48379848del GRCh37
NC_000012.10:g.46666087_46666115del NCBI36
NG_008072.1:g.23438_23466del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.1321-100_1321-72del ENSP00000338213.6:n.1321-100_1321-72del
ENST00000380518.8:c.1528-100_1528-72del MANE Select ENSP00000369889.3:n.1528-100_1528-72del
ENST00000337299.6:c.1321-100_1321-72del ENSP00000338213.6:n.1321-100_1321-72del
ENST00000380518.7:c.1528-100_1528-72del ENSP00000369889.3:n.1528-100_1528-72del
ENST00000493991.5:n.452-100_452-72del
NM_001844.4:c.1528-100_1528-72del NP_001835.3:n.1528-100_1528-72del
NM_033150.2:c.1321-100_1321-72del NP_149162.2:n.1321-100_1321-72del
XM_006719242.2:c.1672-100_1672-72del XP_006719305.2:n.1672-100_1672-72del
XM_011537928.1:c.1672-100_1672-72del XP_011536230.1:n.1672-100_1672-72del
XM_011537929.1:c.1672-100_1672-72del XP_011536231.1:n.1672-100_1672-72del
XM_011537930.1:c.1672-100_1672-72del XP_011536232.1:n.1672-100_1672-72del
XM_011537931.1:c.1672-100_1672-72del XP_011536233.1:n.1672-100_1672-72del
XM_011537932.1:c.1672-100_1672-72del XP_011536234.1:n.1672-100_1672-72del
XM_011537933.1:c.1672-100_1672-72del XP_011536235.1:n.1672-100_1672-72del
XM_011537934.1:c.1669-100_1669-72del XP_011536236.1:n.1669-100_1669-72del
XM_011537935.1:c.616-100_616-72del XP_011536237.1:n.616-100_616-72del
XM_017018828.1:c.1672-100_1672-72del XP_016874317.1:n.1672-100_1672-72del
XM_017018829.1:c.1669-100_1669-72del XP_016874318.1:n.1669-100_1669-72del
XM_017018830.1:c.1462-100_1462-72del XP_016874319.1:n.1462-100_1462-72del
XM_017018831.2:c.982-100_982-72del XP_016874320.1:n.982-100_982-72del
NM_001844.5:c.1528-100_1528-72del MANE Select NP_001835.3:n.1528-100_1528-72del
NM_033150.3:c.1321-100_1321-72del NP_149162.2:n.1321-100_1321-72del