Canonical Allele Identifier: CA1581268377

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332919C= , CM000667.2:g.128332919C=	GRCh38
NC_000005.9:g.127668611C= , CM000667.1:g.127668611C=	GRCh37
NC_000005.8:g.127696510C=	NCBI36
NG_008750.1:g.210125G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.999G=
ENST00000703785.1:n.1080G=
ENST00000262464.9:c.4215G= MANE Select	ENSP00000262464.4:p.Lys1405=
ENST00000262464.8:c.4215G=	ENSP00000262464.4:p.Lys1405=
ENST00000507835.5:c.765G=	ENSP00000426839.1:p.Lys255=
ENST00000508053.5:c.4215G=	ENSP00000424571.1:p.Lys1405=
ENST00000508989.5:c.4116G=	ENSP00000425596.1:p.Lys1372=
ENST00000619499.4:c.4212G=	ENSP00000482132.1:p.Lys1404=
NM_001999.3:c.4215G=	NP_001990.2:p.Lys1405=
XM_017009228.2:c.4062G=	XP_016864717.1:p.Lys1354=
NM_001999.4:c.4215G= MANE Select	NP_001990.2:p.Lys1405=