Canonical Allele Identifier: CA645570667

Gene: COL2A1

Linked Data

• COSMIC: COSM4517184 ; COSM4517185

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978361_47978362delinsTT , CM000674.2:g.47978361_47978362delinsTT	GRCh38
NC_000012.11:g.48372144_48372145delinsTT , CM000674.1:g.48372144_48372145delinsTT	GRCh37
NC_000012.10:g.46658411_46658412delinsTT	NCBI36
NG_008072.1:g.31141_31142delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2725_2726delinsAA	ENSP00000338213.6:p.Gly909Asn
ENST00000380518.8:c.2932_2933delinsAA MANE Select	ENSP00000369889.3:p.Gly978Asn
ENST00000337299.6:c.2725_2726delinsAA	ENSP00000338213.6:p.Gly909Asn
ENST00000380518.7:c.2932_2933delinsAA	ENSP00000369889.3:p.Gly978Asn
ENST00000493991.5:n.2018_2019delinsAA
NM_001844.4:c.2932_2933delinsAA	NP_001835.3:p.Gly978Asn
NM_033150.2:c.2725_2726delinsAA	NP_149162.2:p.Gly909Asn
XM_006719242.2:c.3076_3077delinsAA	XP_006719305.2:p.Gly1026Asn
XM_011537928.1:c.3076_3077delinsAA	XP_011536230.1:p.Gly1026Asn
XM_011537929.1:c.3076_3077delinsAA	XP_011536231.1:p.Gly1026Asn
XM_011537930.1:c.3076_3077delinsAA	XP_011536232.1:p.Gly1026Asn
XM_011537931.1:c.3076_3077delinsAA	XP_011536233.1:p.Gly1026Asn
XM_011537932.1:c.3076_3077delinsAA	XP_011536234.1:p.Gly1026Asn
XM_011537933.1:c.3076_3077delinsAA	XP_011536235.1:p.Gly1026Asn
XM_011537934.1:c.3073_3074delinsAA	XP_011536236.1:p.Gly1025Asn
XM_011537935.1:c.2020_2021delinsAA	XP_011536237.1:p.Gly674Asn
XM_017018828.1:c.3076_3077delinsAA	XP_016874317.1:p.Gly1026Asn
XM_017018829.1:c.3073_3074delinsAA	XP_016874318.1:p.Gly1025Asn
XM_017018830.1:c.2866_2867delinsAA	XP_016874319.1:p.Gly956Asn
XM_017018831.2:c.2386_2387delinsAA	XP_016874320.1:p.Gly796Asn
NM_001844.5:c.2932_2933delinsAA MANE Select	NP_001835.3:p.Gly978Asn
NM_033150.3:c.2725_2726delinsAA	NP_149162.2:p.Gly909Asn