Canonical Allele Identifier: CA1619897197

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171763G= , CM000668.2:g.33171763G=	GRCh38
NC_000006.11:g.33139540G= , CM000668.1:g.33139540G=	GRCh37
NC_000006.10:g.33247518G=	NCBI36
NG_011589.1:g.25706C=

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.3100C= MANE Select	NP_542411.2:p.Arg1034=
ENST00000341947.7:c.3100C= MANE Select	ENSP00000339915.2:p.Arg1034=
NM_080679.2:c.2779C=	NP_542410.2:p.Arg927=
NM_080679.3:c.2779C=	NP_542410.2:p.Arg927=
NM_080680.2:c.3100C=	NP_542411.2:p.Arg1034=
NM_080681.2:c.2842C=	NP_542412.2:p.Arg948=
NM_080681.3:c.2842C=	NP_542412.2:p.Arg948=
ENST00000341947.6:c.3100C=	ENSP00000339915.2:p.Arg1034=
ENST00000361917.5:c.2779C=	ENSP00000355123.1:p.Arg927=
ENST00000374708.8:c.2842C=	ENSP00000363840.4:p.Arg948=
ENST00000477772.1:n.272+5246C=
XM_011514298.1:c.2254C=	XP_011512600.1:p.Arg752=
XM_011514299.1:c.2386C=	XP_011512601.1:p.Arg796=
XM_011514299.2:c.2386C=	XP_011512601.1:p.Arg796=
XM_011514300.1:c.2206C=	XP_011512602.1:p.Arg736=
XM_011514300.2:c.2206C=	XP_011512602.1:p.Arg736=
XM_011514301.1:c.2143C=	XP_011512603.1:p.Arg715=
XM_011514302.1:c.1987C=	XP_011512604.1:p.Arg663=
XM_011514302.2:c.1987C=	XP_011512604.1:p.Arg663=
XM_017010250.1:c.3100C=	XP_016865739.1:p.Arg1034=
XM_017010251.2:c.1918C=	XP_016865740.1:p.Arg640=