Canonical Allele Identifier: CA645570662

Gene: COL2A1

Linked Data

• COSMIC: COSM1637530 ; COSM1637531

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977341_47977342insAA , CM000674.2:g.47977341_47977342insAA	GRCh38
NC_000012.11:g.48371124_48371125insAA , CM000674.1:g.48371124_48371125insAA	GRCh37
NC_000012.10:g.46657391_46657392insAA	NCBI36
NG_008072.1:g.32161_32162insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3044_3045insTT	ENSP00000338213.6:p.Lys1015AsnfsTer?
ENST00000380518.8:c.3251_3252insTT MANE Select	ENSP00000369889.3:p.Lys1084AsnfsTer?
ENST00000337299.6:c.3044_3045insTT	ENSP00000338213.6:p.Lys1015AsnfsTer?
ENST00000380518.7:c.3251_3252insTT	ENSP00000369889.3:p.Lys1084AsnfsTer?
ENST00000493991.5:n.2337_2338insTT
ENST00000546974.1:n.104_105insTT
NM_001844.4:c.3251_3252insTT	NP_001835.3:p.Lys1084AsnfsTer?
NM_033150.2:c.3044_3045insTT	NP_149162.2:p.Lys1015AsnfsTer?
XM_006719242.2:c.3395_3396insTT	XP_006719305.2:p.Lys1132AsnfsTer?
XM_011537928.1:c.3395_3396insTT	XP_011536230.1:p.Lys1132AsnfsTer?
XM_011537929.1:c.3395_3396insTT	XP_011536231.1:p.Lys1132AsnfsTer?
XM_011537930.1:c.3395_3396insTT	XP_011536232.1:p.Lys1132AsnfsTer?
XM_011537931.1:c.3395_3396insTT	XP_011536233.1:p.Lys1132AsnfsTer?
XM_011537932.1:c.3395_3396insTT	XP_011536234.1:p.Lys1132AsnfsTer?
XM_011537933.1:c.3395_3396insTT	XP_011536235.1:p.Lys1132AsnfsTer?
XM_011537934.1:c.3392_3393insTT	XP_011536236.1:p.Lys1131AsnfsTer?
XM_011537935.1:c.2339_2340insTT	XP_011536237.1:p.Lys780AsnfsTer?
XM_017018828.1:c.3395_3396insTT	XP_016874317.1:p.Lys1132AsnfsTer?
XM_017018829.1:c.3392_3393insTT	XP_016874318.1:p.Lys1131AsnfsTer?
XM_017018830.1:c.3185_3186insTT	XP_016874319.1:p.Lys1062AsnfsTer?
XM_017018831.2:c.2705_2706insTT	XP_016874320.1:p.Lys902AsnfsTer?
NM_001844.5:c.3251_3252insTT MANE Select	NP_001835.3:p.Lys1084AsnfsTer?
NM_033150.3:c.3044_3045insTT	NP_149162.2:p.Lys1015AsnfsTer?