Canonical Allele Identifier: CA2795862790

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975579_47975580insCTC , CM000674.2:g.47975579_47975580insCTC	GRCh38
NC_000012.11:g.48369362_48369363insCTC , CM000674.1:g.48369362_48369363insCTC	GRCh37
NC_000012.10:g.46655629_46655630insCTC	NCBI36
NG_008072.1:g.33923_33924insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3416_3417insGAG	ENSP00000338213.6:p.Pro1139_Gly1140insSer
ENST00000380518.8:c.3623_3624insGAG MANE Select	ENSP00000369889.3:p.Pro1208_Gly1209insSer
ENST00000337299.6:c.3416_3417insGAG	ENSP00000338213.6:p.Pro1139_Gly1140insSer
ENST00000380518.7:c.3623_3624insGAG	ENSP00000369889.3:p.Pro1208_Gly1209insSer
ENST00000493991.5:n.2709_2710insGAG
ENST00000546974.1:n.476_477insGAG
NM_001844.4:c.3623_3624insGAG	NP_001835.3:p.Pro1208_Gly1209insSer
NM_033150.2:c.3416_3417insGAG	NP_149162.2:p.Pro1139_Gly1140insSer
XM_006719242.2:c.3767_3768insGAG	XP_006719305.2:p.Pro1256_Gly1257insSer
XM_011537928.1:c.3767_3768insGAG	XP_011536230.1:p.Pro1256_Gly1257insSer
XM_011537929.1:c.3767_3768insGAG	XP_011536231.1:p.Pro1256_Gly1257insSer
XM_011537930.1:c.3767_3768insGAG	XP_011536232.1:p.Pro1256_Gly1257insSer
XM_011537931.1:c.3767_3768insGAG	XP_011536233.1:p.Pro1256_Gly1257insSer
XM_011537932.1:c.3767_3768insGAG	XP_011536234.1:p.Pro1256_Gly1257insSer
XM_011537933.1:c.3767_3768insGAG	XP_011536235.1:p.Pro1256_Gly1257insSer
XM_011537934.1:c.3764_3765insGAG	XP_011536236.1:p.Pro1255_Gly1256insSer
XM_011537935.1:c.2711_2712insGAG	XP_011536237.1:p.Pro904_Gly905insSer
XM_017018828.1:c.3767_3768insGAG	XP_016874317.1:p.Pro1256_Gly1257insSer
XM_017018829.1:c.3764_3765insGAG	XP_016874318.1:p.Pro1255_Gly1256insSer
XM_017018830.1:c.3557_3558insGAG	XP_016874319.1:p.Pro1186_Gly1187insSer
XM_017018831.2:c.3077_3078insGAG	XP_016874320.1:p.Pro1026_Gly1027insSer
NM_001844.5:c.3623_3624insGAG MANE Select	NP_001835.3:p.Pro1208_Gly1209insSer
NM_033150.3:c.3416_3417insGAG	NP_149162.2:p.Pro1139_Gly1140insSer