Canonical Allele Identifier: CA1581270715

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338000C= , CM000667.2:g.128338000C=	GRCh38
NC_000005.9:g.127673692C= , CM000667.1:g.127673692C=	GRCh37
NC_000005.8:g.127701591C=	NCBI36
NG_008750.1:g.205044G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.379G=
ENST00000703785.1:n.460G=
ENST00000262464.9:c.3595G= MANE Select	ENSP00000262464.4:p.Val1199=
ENST00000262464.8:c.3595G=	ENSP00000262464.4:p.Val1199=
ENST00000507835.5:c.145G=	ENSP00000426839.1:p.Val49=
ENST00000508053.5:c.3595G=	ENSP00000424571.1:p.Val1199=
ENST00000508989.5:c.3496G=	ENSP00000425596.1:p.Val1166=
ENST00000619499.4:c.3592G=	ENSP00000482132.1:p.Val1198=
NM_001999.3:c.3595G=	NP_001990.2:p.Val1199=
XM_017009228.2:c.3442G=	XP_016864717.1:p.Val1148=
NM_001999.4:c.3595G= MANE Select	NP_001990.2:p.Val1199=