Canonical Allele Identifier: CA2034471790

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974237_47974240delinsGTGA , CM000674.2:g.47974237_47974240delinsGTGA	GRCh38
NC_000012.11:g.48368020_48368023delinsGTGA , CM000674.1:g.48368020_48368023delinsGTGA	GRCh37
NC_000012.10:g.46654287_46654290delinsGTGA	NCBI36
NG_008072.1:g.35263_35266delinsTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3959_3962delinsTCAC	ENSP00000338213.6:p.Ile1320=
ENST00000380518.8:c.4166_4169delinsTCAC MANE Select	ENSP00000369889.3:p.Ile1389=
ENST00000337299.6:c.3959_3962delinsTCAC	ENSP00000338213.6:p.Ile1320=
ENST00000380518.7:c.4166_4169delinsTCAC	ENSP00000369889.3:p.Ile1389=
ENST00000493991.5:n.3252_3255delinsTCAC
NM_001844.4:c.4166_4169delinsTCAC	NP_001835.3:p.Ile1389=
NM_033150.2:c.3959_3962delinsTCAC	NP_149162.2:p.Ile1320=
XM_006719242.2:c.4310_4313delinsTCAC	XP_006719305.2:p.Ile1437=
XM_011537928.1:c.4310_4313delinsTCAC	XP_011536230.1:p.Ile1437=
XM_011537929.1:c.4310_4313delinsTCAC	XP_011536231.1:p.Ile1437=
XM_011537930.1:c.4310_4313delinsTCAC	XP_011536232.1:p.Ile1437=
XM_011537931.1:c.4310_4313delinsTCAC	XP_011536233.1:p.Ile1437=
XM_011537932.1:c.4310_4313delinsTCAC	XP_011536234.1:p.Ile1437=
XM_011537933.1:c.4310_4313delinsTCAC	XP_011536235.1:p.Ile1437=
XM_011537934.1:c.4307_4310delinsTCAC	XP_011536236.1:p.Ile1436=
XM_011537935.1:c.3254_3257delinsTCAC	XP_011536237.1:p.Ile1085=
XM_017018828.1:c.4310_4313delinsTCAC	XP_016874317.1:p.Ile1437=
XM_017018829.1:c.4307_4310delinsTCAC	XP_016874318.1:p.Ile1436=
XM_017018830.1:c.4100_4103delinsTCAC	XP_016874319.1:p.Ile1367=
XM_017018831.2:c.3620_3623delinsTCAC	XP_016874320.1:p.Ile1207=
NM_001844.5:c.4166_4169delinsTCAC MANE Select	NP_001835.3:p.Ile1389=
NM_033150.3:c.3959_3962delinsTCAC	NP_149162.2:p.Ile1320=