Canonical Allele Identifier: CA2695199066

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2672268
• ClinVar RCV Id: RCV003455896

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977405_47977413del , CM000674.2:g.47977405_47977413del	GRCh38
NC_000012.11:g.48371188_48371196del , CM000674.1:g.48371188_48371196del	GRCh37
NC_000012.10:g.46657455_46657463del	NCBI36
NG_008072.1:g.32090_32098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2973_2981del	ENSP00000338213.6:p.Glu991_Ala994delinsAsp
ENST00000380518.8:c.3180_3188del MANE Select	ENSP00000369889.3:p.Glu1060_Ala1063delinsAsp
ENST00000337299.6:c.2973_2981del	ENSP00000338213.6:p.Glu991_Ala994delinsAsp
ENST00000380518.7:c.3180_3188del	ENSP00000369889.3:p.Glu1060_Ala1063delinsAsp
ENST00000493991.5:n.2266_2274del
ENST00000546974.1:n.33_41del
NM_001844.4:c.3180_3188del	NP_001835.3:p.Glu1060_Ala1063delinsAsp
NM_033150.2:c.2973_2981del	NP_149162.2:p.Glu991_Ala994delinsAsp
XM_006719242.2:c.3324_3332del	XP_006719305.2:p.Glu1108_Ala1111delinsAsp
XM_011537928.1:c.3324_3332del	XP_011536230.1:p.Glu1108_Ala1111delinsAsp
XM_011537929.1:c.3324_3332del	XP_011536231.1:p.Glu1108_Ala1111delinsAsp
XM_011537930.1:c.3324_3332del	XP_011536232.1:p.Glu1108_Ala1111delinsAsp
XM_011537931.1:c.3324_3332del	XP_011536233.1:p.Glu1108_Ala1111delinsAsp
XM_011537932.1:c.3324_3332del	XP_011536234.1:p.Glu1108_Ala1111delinsAsp
XM_011537933.1:c.3324_3332del	XP_011536235.1:p.Glu1108_Ala1111delinsAsp
XM_011537934.1:c.3321_3329del	XP_011536236.1:p.Glu1107_Ala1110delinsAsp
XM_011537935.1:c.2268_2276del	XP_011536237.1:p.Glu756_Ala759delinsAsp
XM_017018828.1:c.3324_3332del	XP_016874317.1:p.Glu1108_Ala1111delinsAsp
XM_017018829.1:c.3321_3329del	XP_016874318.1:p.Glu1107_Ala1110delinsAsp
XM_017018830.1:c.3114_3122del	XP_016874319.1:p.Glu1038_Ala1041delinsAsp
XM_017018831.2:c.2634_2642del	XP_016874320.1:p.Glu878_Ala881delinsAsp
NM_001844.5:c.3180_3188del MANE Select	NP_001835.3:p.Glu1060_Ala1063delinsAsp
NM_033150.3:c.2973_2981del	NP_149162.2:p.Glu991_Ala994delinsAsp