Canonical Allele Identifier: CA2499221650

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1224393
• ClinVar RCV Id: RCV001597460
• dbSNP Id: rs2136512470

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975579_47975605del , CM000674.2:g.47975579_47975605del	GRCh38
NC_000012.11:g.48369362_48369388del , CM000674.1:g.48369362_48369388del	GRCh37
NC_000012.10:g.46655629_46655655del	NCBI36
NG_008072.1:g.33906_33932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3399_3425del	ENSP00000338213.6:p.Gly1134_Pro1142del
ENST00000380518.8:c.3606_3632del MANE Select	ENSP00000369889.3:p.Gly1203_Pro1211del
ENST00000337299.6:c.3399_3425del	ENSP00000338213.6:p.Gly1134_Pro1142del
ENST00000380518.7:c.3606_3632del	ENSP00000369889.3:p.Gly1203_Pro1211del
ENST00000493991.5:n.2692_2718del
ENST00000546974.1:n.459_485del
NM_001844.4:c.3606_3632del	NP_001835.3:p.Gly1203_Pro1211del
NM_033150.2:c.3399_3425del	NP_149162.2:p.Gly1134_Pro1142del
XM_006719242.2:c.3750_3776del	XP_006719305.2:p.Gly1251_Pro1259del
XM_011537928.1:c.3750_3776del	XP_011536230.1:p.Gly1251_Pro1259del
XM_011537929.1:c.3750_3776del	XP_011536231.1:p.Gly1251_Pro1259del
XM_011537930.1:c.3750_3776del	XP_011536232.1:p.Gly1251_Pro1259del
XM_011537931.1:c.3750_3776del	XP_011536233.1:p.Gly1251_Pro1259del
XM_011537932.1:c.3750_3776del	XP_011536234.1:p.Gly1251_Pro1259del
XM_011537933.1:c.3750_3776del	XP_011536235.1:p.Gly1251_Pro1259del
XM_011537934.1:c.3747_3773del	XP_011536236.1:p.Gly1250_Pro1258del
XM_011537935.1:c.2694_2720del	XP_011536237.1:p.Gly899_Pro907del
XM_017018828.1:c.3750_3776del	XP_016874317.1:p.Gly1251_Pro1259del
XM_017018829.1:c.3747_3773del	XP_016874318.1:p.Gly1250_Pro1258del
XM_017018830.1:c.3540_3566del	XP_016874319.1:p.Gly1181_Pro1189del
XM_017018831.2:c.3060_3086del	XP_016874320.1:p.Gly1021_Pro1029del
NM_001844.5:c.3606_3632del MANE Select	NP_001835.3:p.Gly1203_Pro1211del
NM_033150.3:c.3399_3425del	NP_149162.2:p.Gly1134_Pro1142del