Canonical Allele Identifier: CA1581270748

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338084C= , CM000667.2:g.128338084C=	GRCh38
NC_000005.9:g.127673776C= , CM000667.1:g.127673776C=	GRCh37
NC_000005.8:g.127701675C=	NCBI36
NG_008750.1:g.204960G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.295G=
ENST00000703785.1:n.376G=
ENST00000262464.9:c.3511G= MANE Select	ENSP00000262464.4:p.Gly1171=
ENST00000262464.8:c.3511G=	ENSP00000262464.4:p.Gly1171=
ENST00000507835.5:c.61G=	ENSP00000426839.1:p.Gly21=
ENST00000508053.5:c.3511G=	ENSP00000424571.1:p.Gly1171=
ENST00000508989.5:c.3412G=	ENSP00000425596.1:p.Gly1138=
ENST00000619499.4:c.3508G=	ENSP00000482132.1:p.Gly1170=
NM_001999.3:c.3511G=	NP_001990.2:p.Gly1171=
XM_017009228.2:c.3358G=	XP_016864717.1:p.Gly1120=
NM_001999.4:c.3511G= MANE Select	NP_001990.2:p.Gly1171=