Canonical Allele Identifier: CA1581270739

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338066T= , CM000667.2:g.128338066T=	GRCh38
NC_000005.9:g.127673758T= , CM000667.1:g.127673758T=	GRCh37
NC_000005.8:g.127701657T=	NCBI36
NG_008750.1:g.204978A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.313A=
ENST00000703785.1:n.394A=
ENST00000262464.9:c.3529A= MANE Select	ENSP00000262464.4:p.Thr1177=
ENST00000262464.8:c.3529A=	ENSP00000262464.4:p.Thr1177=
ENST00000507835.5:c.79A=	ENSP00000426839.1:p.Thr27=
ENST00000508053.5:c.3529A=	ENSP00000424571.1:p.Thr1177=
ENST00000508989.5:c.3430A=	ENSP00000425596.1:p.Thr1144=
ENST00000619499.4:c.3526A=	ENSP00000482132.1:p.Thr1176=
NM_001999.3:c.3529A=	NP_001990.2:p.Thr1177=
XM_017009228.2:c.3376A=	XP_016864717.1:p.Thr1126=
NM_001999.4:c.3529A= MANE Select	NP_001990.2:p.Thr1177=