Canonical Allele Identifier: CA2837994910

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977358del , CM000674.2:g.47977358del	GRCh38
NC_000012.11:g.48371141del , CM000674.1:g.48371141del	GRCh37
NC_000012.10:g.46657408del	NCBI36
NG_008072.1:g.32145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3028del	ENSP00000338213.6:p.Ala1010LeufsTer?
ENST00000380518.8:c.3235del MANE Select	ENSP00000369889.3:p.Ala1079LeufsTer?
ENST00000337299.6:c.3028del	ENSP00000338213.6:p.Ala1010LeufsTer?
ENST00000380518.7:c.3235del	ENSP00000369889.3:p.Ala1079LeufsTer?
ENST00000493991.5:n.2321del
ENST00000546974.1:n.88del
NM_001844.4:c.3235del	NP_001835.3:p.Ala1079LeufsTer?
NM_033150.2:c.3028del	NP_149162.2:p.Ala1010LeufsTer?
XM_006719242.2:c.3379del	XP_006719305.2:p.Ala1127LeufsTer?
XM_011537928.1:c.3379del	XP_011536230.1:p.Ala1127LeufsTer?
XM_011537929.1:c.3379del	XP_011536231.1:p.Ala1127LeufsTer?
XM_011537930.1:c.3379del	XP_011536232.1:p.Ala1127LeufsTer?
XM_011537931.1:c.3379del	XP_011536233.1:p.Ala1127LeufsTer?
XM_011537932.1:c.3379del	XP_011536234.1:p.Ala1127LeufsTer?
XM_011537933.1:c.3379del	XP_011536235.1:p.Ala1127LeufsTer?
XM_011537934.1:c.3376del	XP_011536236.1:p.Ala1126LeufsTer?
XM_011537935.1:c.2323del	XP_011536237.1:p.Ala775LeufsTer?
XM_017018828.1:c.3379del	XP_016874317.1:p.Ala1127LeufsTer?
XM_017018829.1:c.3376del	XP_016874318.1:p.Ala1126LeufsTer?
XM_017018830.1:c.3169del	XP_016874319.1:p.Ala1057LeufsTer?
XM_017018831.2:c.2689del	XP_016874320.1:p.Ala897LeufsTer?
NM_001844.5:c.3235del MANE Select	NP_001835.3:p.Ala1079LeufsTer?
NM_033150.3:c.3028del	NP_149162.2:p.Ala1010LeufsTer?