Canonical Allele Identifier: CA1619893205

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33167305G= , CM000668.2:g.33167305G=	GRCh38
NC_000006.11:g.33135082G= , CM000668.1:g.33135082G=	GRCh37
NC_000006.10:g.33243060G=	NCBI36
NG_011589.1:g.30164C=

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.4135C= MANE Select	NP_542411.2:p.Arg1379=
ENST00000341947.7:c.4135C= MANE Select	ENSP00000339915.2:p.Arg1379=
NM_080679.2:c.3814C=	NP_542410.2:p.Arg1272=
NM_080679.3:c.3814C=	NP_542410.2:p.Arg1272=
NM_080680.2:c.4135C=	NP_542411.2:p.Arg1379=
NM_080681.2:c.3877C=	NP_542412.2:p.Arg1293=
NM_080681.3:c.3877C=	NP_542412.2:p.Arg1293=
ENST00000341947.6:c.4135C=	ENSP00000339915.2:p.Arg1379=
ENST00000361917.5:c.3814C=	ENSP00000355123.1:p.Arg1272=
ENST00000374708.8:c.3877C=	ENSP00000363840.4:p.Arg1293=
ENST00000477772.1:n.273-1489C=
ENST00000683572.1:n.102C=
XM_011514298.1:c.3289C=	XP_011512600.1:p.Arg1097=
XM_011514299.1:c.3421C=	XP_011512601.1:p.Arg1141=
XM_011514299.2:c.3421C=	XP_011512601.1:p.Arg1141=
XM_011514300.1:c.3241C=	XP_011512602.1:p.Arg1081=
XM_011514300.2:c.3241C=	XP_011512602.1:p.Arg1081=
XM_011514301.1:c.3178C=	XP_011512603.1:p.Arg1060=
XM_011514302.1:c.3022C=	XP_011512604.1:p.Arg1008=
XM_011514302.2:c.3022C=	XP_011512604.1:p.Arg1008=
XM_017010250.1:c.4135C=	XP_016865739.1:p.Arg1379=
XM_017010251.2:c.2953C=	XP_016865740.1:p.Arg985=