Canonical Allele Identifier: CA1581269516

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335285T= , CM000667.2:g.128335285T=	GRCh38
NC_000005.9:g.127670977T= , CM000667.1:g.127670977T=	GRCh37
NC_000005.8:g.127698876T=	NCBI36
NG_008750.1:g.207759A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.642A=
ENST00000703785.1:n.723A=
ENST00000262464.9:c.3858A= MANE Select	ENSP00000262464.4:p.Glu1286=
ENST00000262464.8:c.3858A=	ENSP00000262464.4:p.Glu1286=
ENST00000507835.5:c.408A=	ENSP00000426839.1:p.Glu136=
ENST00000508053.5:c.3858A=	ENSP00000424571.1:p.Glu1286=
ENST00000508989.5:c.3759A=	ENSP00000425596.1:p.Glu1253=
ENST00000619499.4:c.3855A=	ENSP00000482132.1:p.Glu1285=
NM_001999.3:c.3858A=	NP_001990.2:p.Glu1286=
XM_017009228.2:c.3705A=	XP_016864717.1:p.Glu1235=
NM_001999.4:c.3858A= MANE Select	NP_001990.2:p.Glu1286=