Canonical Allele Identifier: CA2034476332
Gene: COL2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1938764055

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977250_47977266del , CM000674.2:g.47977250_47977266del GRCh38
NC_000012.11:g.48371033_48371049del , CM000674.1:g.48371033_48371049del GRCh37
NC_000012.10:g.46657300_46657316del NCBI36
NG_008072.1:g.32243_32259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.3066+60_3066+76del ENSP00000338213.6:n.3066+60_3066+76del
ENST00000380518.8:c.3273+60_3273+76del MANE Select ENSP00000369889.3:n.3273+60_3273+76del
ENST00000337299.6:c.3066+60_3066+76del ENSP00000338213.6:n.3066+60_3066+76del
ENST00000380518.7:c.3273+60_3273+76del ENSP00000369889.3:n.3273+60_3273+76del
ENST00000493991.5:n.2359+60_2359+76del
ENST00000546974.1:n.126+60_126+76del
NM_001844.4:c.3273+60_3273+76del NP_001835.3:n.3273+60_3273+76del
NM_033150.2:c.3066+60_3066+76del NP_149162.2:n.3066+60_3066+76del
XM_006719242.2:c.3417+60_3417+76del XP_006719305.2:n.3417+60_3417+76del
XM_011537928.1:c.3417+60_3417+76del XP_011536230.1:n.3417+60_3417+76del
XM_011537929.1:c.3417+60_3417+76del XP_011536231.1:n.3417+60_3417+76del
XM_011537930.1:c.3417+60_3417+76del XP_011536232.1:n.3417+60_3417+76del
XM_011537931.1:c.3417+60_3417+76del XP_011536233.1:n.3417+60_3417+76del
XM_011537932.1:c.3417+60_3417+76del XP_011536234.1:n.3417+60_3417+76del
XM_011537933.1:c.3417+60_3417+76del XP_011536235.1:n.3417+60_3417+76del
XM_011537934.1:c.3414+60_3414+76del XP_011536236.1:n.3414+60_3414+76del
XM_011537935.1:c.2361+60_2361+76del XP_011536237.1:n.2361+60_2361+76del
XM_017018828.1:c.3417+60_3417+76del XP_016874317.1:n.3417+60_3417+76del
XM_017018829.1:c.3414+60_3414+76del XP_016874318.1:n.3414+60_3414+76del
XM_017018830.1:c.3207+60_3207+76del XP_016874319.1:n.3207+60_3207+76del
XM_017018831.2:c.2727+60_2727+76del XP_016874320.1:n.2727+60_2727+76del
NM_001844.5:c.3273+60_3273+76del MANE Select NP_001835.3:n.3273+60_3273+76del
NM_033150.3:c.3066+60_3066+76del NP_149162.2:n.3066+60_3066+76del