Canonical Allele Identifier: CA1581269610

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335503T= , CM000667.2:g.128335503T=	GRCh38
NC_000005.9:g.127671195T= , CM000667.1:g.127671195T=	GRCh37
NC_000005.8:g.127699094T=	NCBI36
NG_008750.1:g.207541A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.583A=
ENST00000703785.1:n.664A=
ENST00000262464.9:c.3799A= MANE Select	ENSP00000262464.4:p.Ser1267=
ENST00000262464.8:c.3799A=	ENSP00000262464.4:p.Ser1267=
ENST00000507835.5:c.349A=	ENSP00000426839.1:p.Ser117=
ENST00000508053.5:c.3799A=	ENSP00000424571.1:p.Ser1267=
ENST00000508989.5:c.3700A=	ENSP00000425596.1:p.Ser1234=
ENST00000619499.4:c.3796A=	ENSP00000482132.1:p.Ser1266=
NM_001999.3:c.3799A=	NP_001990.2:p.Ser1267=
XM_017009228.2:c.3646A=	XP_016864717.1:p.Ser1216=
NM_001999.4:c.3799A= MANE Select	NP_001990.2:p.Ser1267=