Canonical Allele Identifier: CA1581270738

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338065G= , CM000667.2:g.128338065G=	GRCh38
NC_000005.9:g.127673757G= , CM000667.1:g.127673757G=	GRCh37
NC_000005.8:g.127701656G=	NCBI36
NG_008750.1:g.204979C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.314C=
ENST00000703785.1:n.395C=
ENST00000262464.9:c.3530C= MANE Select	ENSP00000262464.4:p.Thr1177=
ENST00000262464.8:c.3530C=	ENSP00000262464.4:p.Thr1177=
ENST00000507835.5:c.80C=	ENSP00000426839.1:p.Thr27=
ENST00000508053.5:c.3530C=	ENSP00000424571.1:p.Thr1177=
ENST00000508989.5:c.3431C=	ENSP00000425596.1:p.Thr1144=
ENST00000619499.4:c.3527C=	ENSP00000482132.1:p.Thr1176=
NM_001999.3:c.3530C=	NP_001990.2:p.Thr1177=
XM_017009228.2:c.3377C=	XP_016864717.1:p.Thr1126=
NM_001999.4:c.3530C= MANE Select	NP_001990.2:p.Thr1177=