Canonical Allele Identifier: CA1581267362

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330640T= , CM000667.2:g.128330640T=	GRCh38
NC_000005.9:g.127666332T= , CM000667.1:g.127666332T=	GRCh37
NC_000005.8:g.127694231T=	NCBI36
NG_008750.1:g.212404A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1062A=
ENST00000703785.1:n.1143A=
ENST00000262464.9:c.4278A= MANE Select	ENSP00000262464.4:p.Val1426=
ENST00000262464.8:c.4278A=	ENSP00000262464.4:p.Val1426=
ENST00000507835.5:c.828A=	ENSP00000426839.1:p.Val276=
ENST00000508053.5:c.4278A=	ENSP00000424571.1:p.Val1426=
ENST00000508989.5:c.4179A=	ENSP00000425596.1:p.Val1393=
ENST00000619499.4:c.4275A=	ENSP00000482132.1:p.Val1425=
NM_001999.3:c.4278A=	NP_001990.2:p.Val1426=
XM_017009228.2:c.4125A=	XP_016864717.1:p.Val1375=
NM_001999.4:c.4278A= MANE Select	NP_001990.2:p.Val1426=