Canonical Allele Identifier: CA645570663

Gene: COL2A1

Linked Data

• COSMIC: COSM1638094 ; COSM1638095

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978074_47978075insAA , CM000674.2:g.47978074_47978075insAA	GRCh38
NC_000012.11:g.48371857_48371858insAA , CM000674.1:g.48371857_48371858insAA	GRCh37
NC_000012.10:g.46658124_46658125insAA	NCBI36
NG_008072.1:g.31428_31429insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2839_2840insTT	ENSP00000338213.6:p.Arg947IlefsTer13
ENST00000380518.8:c.3046_3047insTT MANE Select	ENSP00000369889.3:p.Arg1016IlefsTer13
ENST00000337299.6:c.2839_2840insTT	ENSP00000338213.6:p.Arg947IlefsTer13
ENST00000380518.7:c.3046_3047insTT	ENSP00000369889.3:p.Arg1016IlefsTer13
ENST00000493991.5:n.2132_2133insTT
NM_001844.4:c.3046_3047insTT	NP_001835.3:p.Arg1016IlefsTer13
NM_033150.2:c.2839_2840insTT	NP_149162.2:p.Arg947IlefsTer13
XM_006719242.2:c.3190_3191insTT	XP_006719305.2:p.Arg1064IlefsTer13
XM_011537928.1:c.3190_3191insTT	XP_011536230.1:p.Arg1064IlefsTer13
XM_011537929.1:c.3190_3191insTT	XP_011536231.1:p.Arg1064IlefsTer13
XM_011537930.1:c.3190_3191insTT	XP_011536232.1:p.Arg1064IlefsTer13
XM_011537931.1:c.3190_3191insTT	XP_011536233.1:p.Arg1064IlefsTer13
XM_011537932.1:c.3190_3191insTT	XP_011536234.1:p.Arg1064IlefsTer13
XM_011537933.1:c.3190_3191insTT	XP_011536235.1:p.Arg1064IlefsTer13
XM_011537934.1:c.3187_3188insTT	XP_011536236.1:p.Arg1063IlefsTer13
XM_011537935.1:c.2134_2135insTT	XP_011536237.1:p.Arg712IlefsTer13
XM_017018828.1:c.3190_3191insTT	XP_016874317.1:p.Arg1064IlefsTer13
XM_017018829.1:c.3187_3188insTT	XP_016874318.1:p.Arg1063IlefsTer13
XM_017018830.1:c.2980_2981insTT	XP_016874319.1:p.Arg994IlefsTer13
XM_017018831.2:c.2500_2501insTT	XP_016874320.1:p.Arg834IlefsTer13
NM_001844.5:c.3046_3047insTT MANE Select	NP_001835.3:p.Arg1016IlefsTer13
NM_033150.3:c.2839_2840insTT	NP_149162.2:p.Arg947IlefsTer13