Canonical Allele Identifier: CA1581270725

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338018G= , CM000667.2:g.128338018G=	GRCh38
NC_000005.9:g.127673710G= , CM000667.1:g.127673710G=	GRCh37
NC_000005.8:g.127701609G=	NCBI36
NG_008750.1:g.205026C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.361C=
ENST00000703785.1:n.442C=
ENST00000262464.9:c.3577C= MANE Select	ENSP00000262464.4:p.Pro1193=
ENST00000262464.8:c.3577C=	ENSP00000262464.4:p.Pro1193=
ENST00000507835.5:c.127C=	ENSP00000426839.1:p.Pro43=
ENST00000508053.5:c.3577C=	ENSP00000424571.1:p.Pro1193=
ENST00000508989.5:c.3478C=	ENSP00000425596.1:p.Pro1160=
ENST00000619499.4:c.3574C=	ENSP00000482132.1:p.Pro1192=
NM_001999.3:c.3577C=	NP_001990.2:p.Pro1193=
XM_017009228.2:c.3424C=	XP_016864717.1:p.Pro1142=
NM_001999.4:c.3577C= MANE Select	NP_001990.2:p.Pro1193=