Canonical Allele Identifier: CA1581268386

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332936T= , CM000667.2:g.128332936T=	GRCh38
NC_000005.9:g.127668628T= , CM000667.1:g.127668628T=	GRCh37
NC_000005.8:g.127696527T=	NCBI36
NG_008750.1:g.210108A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.982A=
ENST00000703785.1:n.1063A=
ENST00000262464.9:c.4198A= MANE Select	ENSP00000262464.4:p.Ile1400=
ENST00000262464.8:c.4198A=	ENSP00000262464.4:p.Ile1400=
ENST00000507835.5:c.748A=	ENSP00000426839.1:p.Ile250=
ENST00000508053.5:c.4198A=	ENSP00000424571.1:p.Ile1400=
ENST00000508989.5:c.4099A=	ENSP00000425596.1:p.Ile1367=
ENST00000619499.4:c.4195A=	ENSP00000482132.1:p.Ile1399=
NM_001999.3:c.4198A=	NP_001990.2:p.Ile1400=
XM_017009228.2:c.4045A=	XP_016864717.1:p.Ile1349=
NM_001999.4:c.4198A= MANE Select	NP_001990.2:p.Ile1400=