Canonical Allele Identifier: CA1581268416

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333031A= , CM000667.2:g.128333031A=	GRCh38
NC_000005.9:g.127668723A= , CM000667.1:g.127668723A=	GRCh37
NC_000005.8:g.127696622A=	NCBI36
NG_008750.1:g.210013T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.887T=
ENST00000703785.1:n.968T=
ENST00000262464.9:c.4103T= MANE Select	ENSP00000262464.4:p.Val1368=
ENST00000262464.8:c.4103T=	ENSP00000262464.4:p.Val1368=
ENST00000507835.5:c.653T=	ENSP00000426839.1:p.Val218=
ENST00000508053.5:c.4103T=	ENSP00000424571.1:p.Val1368=
ENST00000508989.5:c.4004T=	ENSP00000425596.1:p.Val1335=
ENST00000619499.4:c.4100T=	ENSP00000482132.1:p.Val1367=
NM_001999.3:c.4103T=	NP_001990.2:p.Val1368=
XM_017009228.2:c.3950T=	XP_016864717.1:p.Val1317=
NM_001999.4:c.4103T= MANE Select	NP_001990.2:p.Val1368=