Canonical Allele Identifier: CA2573148597

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1453157
• ClinVar RCV Id: RCV002000154
• dbSNP Id: rs2136512373

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975567_47975584del , CM000674.2:g.47975567_47975584del	GRCh38
NC_000012.11:g.48369350_48369367del , CM000674.1:g.48369350_48369367del	GRCh37
NC_000012.10:g.46655617_46655634del	NCBI36
NG_008072.1:g.33927_33944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3420_3437del	ENSP00000338213.6:p.Pro1141_Gly1146del
ENST00000380518.8:c.3627_3644del MANE Select	ENSP00000369889.3:p.Pro1210_Gly1215del
ENST00000337299.6:c.3420_3437del	ENSP00000338213.6:p.Pro1141_Gly1146del
ENST00000380518.7:c.3627_3644del	ENSP00000369889.3:p.Pro1210_Gly1215del
ENST00000493991.5:n.2713_2730del
ENST00000546974.1:n.480_497del
NM_001844.4:c.3627_3644del	NP_001835.3:p.Pro1210_Gly1215del
NM_033150.2:c.3420_3437del	NP_149162.2:p.Pro1141_Gly1146del
XM_006719242.2:c.3771_3788del	XP_006719305.2:p.Pro1258_Gly1263del
XM_011537928.1:c.3771_3788del	XP_011536230.1:p.Pro1258_Gly1263del
XM_011537929.1:c.3771_3788del	XP_011536231.1:p.Pro1258_Gly1263del
XM_011537930.1:c.3771_3788del	XP_011536232.1:p.Pro1258_Gly1263del
XM_011537931.1:c.3771_3788del	XP_011536233.1:p.Pro1258_Gly1263del
XM_011537932.1:c.3771_3788del	XP_011536234.1:p.Pro1258_Gly1263del
XM_011537933.1:c.3771_3788del	XP_011536235.1:p.Pro1258_Gly1263del
XM_011537934.1:c.3768_3785del	XP_011536236.1:p.Pro1257_Gly1262del
XM_011537935.1:c.2715_2732del	XP_011536237.1:p.Pro906_Gly911del
XM_017018828.1:c.3771_3788del	XP_016874317.1:p.Pro1258_Gly1263del
XM_017018829.1:c.3768_3785del	XP_016874318.1:p.Pro1257_Gly1262del
XM_017018830.1:c.3561_3578del	XP_016874319.1:p.Pro1188_Gly1193del
XM_017018831.2:c.3081_3098del	XP_016874320.1:p.Pro1028_Gly1033del
NM_001844.5:c.3627_3644del MANE Select	NP_001835.3:p.Pro1210_Gly1215del
NM_033150.3:c.3420_3437del	NP_149162.2:p.Pro1141_Gly1146del