Canonical Allele Identifier: CA2034448500

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981787T= , CM000674.2:g.47981787T=	GRCh38
NC_000012.11:g.48375570T= , CM000674.1:g.48375570T=	GRCh37
NC_000012.10:g.46661837T=	NCBI36
NG_008072.1:g.27716A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2191A=	ENSP00000338213.6:p.Asn731=
ENST00000380518.8:c.2398A= MANE Select	ENSP00000369889.3:p.Asn800=
ENST00000337299.6:c.2191A=	ENSP00000338213.6:p.Asn731=
ENST00000380518.7:c.2398A=	ENSP00000369889.3:p.Asn800=
ENST00000483376.1:n.576A=
ENST00000493991.5:n.1484A=
NM_001844.4:c.2398A=	NP_001835.3:p.Asn800=
NM_033150.2:c.2191A=	NP_149162.2:p.Asn731=
XM_006719242.2:c.2542A=	XP_006719305.2:p.Asn848=
XM_011537928.1:c.2542A=	XP_011536230.1:p.Asn848=
XM_011537929.1:c.2542A=	XP_011536231.1:p.Asn848=
XM_011537930.1:c.2542A=	XP_011536232.1:p.Asn848=
XM_011537931.1:c.2542A=	XP_011536233.1:p.Asn848=
XM_011537932.1:c.2542A=	XP_011536234.1:p.Asn848=
XM_011537933.1:c.2542A=	XP_011536235.1:p.Asn848=
XM_011537934.1:c.2539A=	XP_011536236.1:p.Asn847=
XM_011537935.1:c.1486A=	XP_011536237.1:p.Asn496=
XR_944910.1:n.208+361T=
XM_017018828.1:c.2542A=	XP_016874317.1:p.Asn848=
XM_017018829.1:c.2539A=	XP_016874318.1:p.Asn847=
XM_017018830.1:c.2332A=	XP_016874319.1:p.Asn778=
XM_017018831.2:c.1852A=	XP_016874320.1:p.Asn618=
NM_001844.5:c.2398A= MANE Select	NP_001835.3:p.Asn800=
NM_033150.3:c.2191A=	NP_149162.2:p.Asn731=