Canonical Allele Identifier: CA1581270762

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338115G= , CM000667.2:g.128338115G=	GRCh38
NC_000005.9:g.127673807G= , CM000667.1:g.127673807G=	GRCh37
NC_000005.8:g.127701706G=	NCBI36
NG_008750.1:g.204929C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.264C=
ENST00000703785.1:n.345C=
ENST00000262464.9:c.3480C= MANE Select	ENSP00000262464.4:p.Asp1160=
ENST00000262464.8:c.3480C=	ENSP00000262464.4:p.Asp1160=
ENST00000507835.5:c.30C=	ENSP00000426839.1:p.Asp10=
ENST00000508053.5:c.3480C=	ENSP00000424571.1:p.Asp1160=
ENST00000508989.5:c.3381C=	ENSP00000425596.1:p.Asp1127=
ENST00000619499.4:c.3477C=	ENSP00000482132.1:p.Asp1159=
NM_001999.3:c.3480C=	NP_001990.2:p.Asp1160=
XM_017009228.2:c.3327C=	XP_016864717.1:p.Asp1109=
NM_001999.4:c.3480C= MANE Select	NP_001990.2:p.Asp1160=