Canonical Allele Identifier: CA1581255405

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305029C= , CM000667.2:g.128305029C=	GRCh38
NC_000005.9:g.127640721C= , CM000667.1:g.127640721C=	GRCh37
NC_000005.8:g.127668620C=	NCBI36
NG_008750.1:g.238015G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2512G=
ENST00000703785.1:n.2431G=
ENST00000262464.9:c.5728G= MANE Select	ENSP00000262464.4:p.Asp1910=
ENST00000262464.8:c.5728G=	ENSP00000262464.4:p.Asp1910=
ENST00000508053.5:c.5728G=	ENSP00000424571.1:p.Asp1910=
ENST00000619499.4:c.5725G=	ENSP00000482132.1:p.Asp1909=
NM_001999.3:c.5728G=	NP_001990.2:p.Asp1910=
XM_017009228.2:c.5575G=	XP_016864717.1:p.Asp1859=
NM_001999.4:c.5728G= MANE Select	NP_001990.2:p.Asp1910=