Canonical Allele Identifier: CA1581255393

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304996T= , CM000667.2:g.128304996T=	GRCh38
NC_000005.9:g.127640688T= , CM000667.1:g.127640688T=	GRCh37
NC_000005.8:g.127668587T=	NCBI36
NG_008750.1:g.238048A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2545A=
ENST00000703785.1:n.2464A=
ENST00000262464.9:c.5761A= MANE Select	ENSP00000262464.4:p.Asn1921=
ENST00000262464.8:c.5761A=	ENSP00000262464.4:p.Asn1921=
ENST00000508053.5:c.5761A=	ENSP00000424571.1:p.Asn1921=
ENST00000619499.4:c.5758A=	ENSP00000482132.1:p.Asn1920=
NM_001999.3:c.5761A=	NP_001990.2:p.Asn1921=
XM_017009228.2:c.5608A=	XP_016864717.1:p.Asn1870=
NM_001999.4:c.5761A= MANE Select	NP_001990.2:p.Asn1921=