Canonical Allele Identifier: CA1619899731

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33177700G= , CM000668.2:g.33177700G=	GRCh38
NC_000006.11:g.33145477G= , CM000668.1:g.33145477G=	GRCh37
NC_000006.10:g.33253455G=	NCBI36
NG_011589.1:g.19769C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.452C=
ENST00000341947.7:c.1879C= MANE Select	ENSP00000339915.2:p.Arg627=
ENST00000341947.6:c.1879C=	ENSP00000339915.2:p.Arg627=
ENST00000361917.5:c.1558C=	ENSP00000355123.1:p.Arg520=
ENST00000374708.8:c.1621C=	ENSP00000363840.4:p.Arg541=
ENST00000477772.1:n.98C=
NM_080679.2:c.1558C=	NP_542410.2:p.Arg520=
NM_080680.2:c.1879C=	NP_542411.2:p.Arg627=
NM_080681.2:c.1621C=	NP_542412.2:p.Arg541=
XM_011514298.1:c.1033C=	XP_011512600.1:p.Arg345=
XM_011514299.1:c.1165C=	XP_011512601.1:p.Arg389=
XM_011514300.1:c.985C=	XP_011512602.1:p.Arg329=
XM_011514301.1:c.922C=	XP_011512603.1:p.Arg308=
XM_011514302.1:c.766C=	XP_011512604.1:p.Arg256=
XM_011514299.2:c.1165C=	XP_011512601.1:p.Arg389=
XM_011514300.2:c.985C=	XP_011512602.1:p.Arg329=
XM_011514302.2:c.766C=	XP_011512604.1:p.Arg256=
XM_017010250.1:c.1879C=	XP_016865739.1:p.Arg627=
XM_017010251.2:c.697C=	XP_016865740.1:p.Arg233=
NM_080680.3:c.1879C= MANE Select	NP_542411.2:p.Arg627=
NM_080681.3:c.1621C=	NP_542412.2:p.Arg541=
NM_080679.3:c.1558C=	NP_542410.2:p.Arg520=