Canonical Allele Identifier: CA1581269607

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335496C= , CM000667.2:g.128335496C=	GRCh38
NC_000005.9:g.127671188C= , CM000667.1:g.127671188C=	GRCh37
NC_000005.8:g.127699087C=	NCBI36
NG_008750.1:g.207548G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.590G=
ENST00000703785.1:n.671G=
ENST00000262464.9:c.3806G= MANE Select	ENSP00000262464.4:p.Ser1269=
ENST00000262464.8:c.3806G=	ENSP00000262464.4:p.Ser1269=
ENST00000507835.5:c.356G=	ENSP00000426839.1:p.Ser119=
ENST00000508053.5:c.3806G=	ENSP00000424571.1:p.Ser1269=
ENST00000508989.5:c.3707G=	ENSP00000425596.1:p.Ser1236=
ENST00000619499.4:c.3803G=	ENSP00000482132.1:p.Ser1268=
NM_001999.3:c.3806G=	NP_001990.2:p.Ser1269=
XM_017009228.2:c.3653G=	XP_016864717.1:p.Ser1218=
NM_001999.4:c.3806G= MANE Select	NP_001990.2:p.Ser1269=