Canonical Allele Identifier: CA2795872404

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48000101_48000102insAGA , CM000674.2:g.48000101_48000102insAGA	GRCh38
NC_000012.11:g.48393884_48393885insAGA , CM000674.1:g.48393884_48393885insAGA	GRCh37
NC_000012.10:g.46680151_46680152insAGA	NCBI36
NG_008072.1:g.9401_9402insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.86-1671_86-1670insTCT	ENSP00000338213.6:n.86-1671_86-1670insTCT
ENST00000380518.8:c.109_110insTCT MANE Select	ENSP00000369889.3:p.Asp37delinsValTyr
ENST00000490609.2:n.342_343insTCT
ENST00000337299.6:c.86-1671_86-1670insTCT	ENSP00000338213.6:n.86-1671_86-1670insTCT
ENST00000380518.7:c.109_110insTCT	ENSP00000369889.3:p.Asp37delinsValTyr
ENST00000474996.6:n.347_348insTCT
ENST00000490609.1:n.274_275insTCT
NM_001844.4:c.109_110insTCT	NP_001835.3:p.Asp37delinsValTyr
NM_033150.2:c.86-1671_86-1670insTCT	NP_149162.2:n.86-1671_86-1670insTCT
XM_006719242.2:c.250_251insTCT	XP_006719305.2:p.Asp84delinsValTyr
XM_011537928.1:c.250_251insTCT	XP_011536230.1:p.Asp84delinsValTyr
XM_011537929.1:c.250_251insTCT	XP_011536231.1:p.Asp84delinsValTyr
XM_011537930.1:c.250_251insTCT	XP_011536232.1:p.Asp84delinsValTyr
XM_011537931.1:c.250_251insTCT	XP_011536233.1:p.Asp84delinsValTyr
XM_011537932.1:c.250_251insTCT	XP_011536234.1:p.Asp84delinsValTyr
XM_011537933.1:c.250_251insTCT	XP_011536235.1:p.Asp84delinsValTyr
XM_011537934.1:c.250_251insTCT	XP_011536236.1:p.Asp84delinsValTyr
XM_017018828.1:c.250_251insTCT	XP_016874317.1:p.Asp84delinsValTyr
XM_017018829.1:c.250_251insTCT	XP_016874318.1:p.Asp84delinsValTyr
XM_017018830.1:c.227-1671_227-1670insTCT	XP_016874319.1:n.227-1671_227-1670insTCT
XM_017018831.2:c.-438_-437insTCT	XP_016874320.1:n.-438_-437insTCT
NM_001844.5:c.109_110insTCT MANE Select	NP_001835.3:p.Asp37delinsValTyr
NM_033150.3:c.86-1671_86-1670insTCT	NP_149162.2:n.86-1671_86-1670insTCT