Canonical Allele Identifier: CA1581267372

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330658G= , CM000667.2:g.128330658G=	GRCh38
NC_000005.9:g.127666350G= , CM000667.1:g.127666350G=	GRCh37
NC_000005.8:g.127694249G=	NCBI36
NG_008750.1:g.212386C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1044C=
ENST00000703785.1:n.1125C=
ENST00000262464.9:c.4260C= MANE Select	ENSP00000262464.4:p.Ser1420=
ENST00000262464.8:c.4260C=	ENSP00000262464.4:p.Ser1420=
ENST00000507835.5:c.810C=	ENSP00000426839.1:p.Ser270=
ENST00000508053.5:c.4260C=	ENSP00000424571.1:p.Ser1420=
ENST00000508989.5:c.4161C=	ENSP00000425596.1:p.Ser1387=
ENST00000619499.4:c.4257C=	ENSP00000482132.1:p.Ser1419=
NM_001999.3:c.4260C=	NP_001990.2:p.Ser1420=
XM_017009228.2:c.4107C=	XP_016864717.1:p.Ser1369=
NM_001999.4:c.4260C= MANE Select	NP_001990.2:p.Ser1420=