Canonical Allele Identifier: CA2795872416

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48000171_48000172insACA , CM000674.2:g.48000171_48000172insACA	GRCh38
NC_000012.11:g.48393954_48393955insACA , CM000674.1:g.48393954_48393955insACA	GRCh37
NC_000012.10:g.46680221_46680222insACA	NCBI36
NG_008072.1:g.9331_9332insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.86-1741_86-1740insTGT	ENSP00000338213.6:n.86-1741_86-1740insTGT
ENST00000380518.8:c.86-47_86-46insTGT MANE Select	ENSP00000369889.3:n.86-47_86-46insTGT
ENST00000490609.2:n.319-47_319-46insTGT
ENST00000337299.6:c.86-1741_86-1740insTGT	ENSP00000338213.6:n.86-1741_86-1740insTGT
ENST00000380518.7:c.86-47_86-46insTGT	ENSP00000369889.3:n.86-47_86-46insTGT
ENST00000474996.6:n.324-47_324-46insTGT
ENST00000490609.1:n.251-47_251-46insTGT
NM_001844.4:c.86-47_86-46insTGT	NP_001835.3:n.86-47_86-46insTGT
NM_033150.2:c.86-1741_86-1740insTGT	NP_149162.2:n.86-1741_86-1740insTGT
XM_006719242.2:c.227-47_227-46insTGT	XP_006719305.2:n.227-47_227-46insTGT
XM_011537928.1:c.227-47_227-46insTGT	XP_011536230.1:n.227-47_227-46insTGT
XM_011537929.1:c.227-47_227-46insTGT	XP_011536231.1:n.227-47_227-46insTGT
XM_011537930.1:c.227-47_227-46insTGT	XP_011536232.1:n.227-47_227-46insTGT
XM_011537931.1:c.227-47_227-46insTGT	XP_011536233.1:n.227-47_227-46insTGT
XM_011537932.1:c.227-47_227-46insTGT	XP_011536234.1:n.227-47_227-46insTGT
XM_011537933.1:c.227-47_227-46insTGT	XP_011536235.1:n.227-47_227-46insTGT
XM_011537934.1:c.227-47_227-46insTGT	XP_011536236.1:n.227-47_227-46insTGT
XM_017018828.1:c.227-47_227-46insTGT	XP_016874317.1:n.227-47_227-46insTGT
XM_017018829.1:c.227-47_227-46insTGT	XP_016874318.1:n.227-47_227-46insTGT
XM_017018830.1:c.227-1741_227-1740insTGT	XP_016874319.1:n.227-1741_227-1740insTGT
XM_017018831.2:c.-461-47_-461-46insTGT	XP_016874320.1:n.-461-47_-461-46insTGT
NM_001844.5:c.86-47_86-46insTGT MANE Select	NP_001835.3:n.86-47_86-46insTGT
NM_033150.3:c.86-1741_86-1740insTGT	NP_149162.2:n.86-1741_86-1740insTGT