Canonical Allele Identifier: CA1581269483

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335212A= , CM000667.2:g.128335212A=	GRCh38
NC_000005.9:g.127670904A= , CM000667.1:g.127670904A=	GRCh37
NC_000005.8:g.127698803A=	NCBI36
NG_008750.1:g.207832T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.715T=
ENST00000703785.1:n.796T=
ENST00000262464.9:c.3931T= MANE Select	ENSP00000262464.4:p.Tyr1311=
ENST00000262464.8:c.3931T=	ENSP00000262464.4:p.Tyr1311=
ENST00000507835.5:c.481T=	ENSP00000426839.1:p.Tyr161=
ENST00000508053.5:c.3931T=	ENSP00000424571.1:p.Tyr1311=
ENST00000508989.5:c.3832T=	ENSP00000425596.1:p.Tyr1278=
ENST00000619499.4:c.3928T=	ENSP00000482132.1:p.Tyr1310=
NM_001999.3:c.3931T=	NP_001990.2:p.Tyr1311=
XM_017009228.2:c.3778T=	XP_016864717.1:p.Tyr1260=
NM_001999.4:c.3931T= MANE Select	NP_001990.2:p.Tyr1311=