Canonical Allele Identifier: CA1581282249

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357279T= , CM000667.2:g.128357279T=	GRCh38
NC_000005.9:g.127692971T= , CM000667.1:g.127692971T=	GRCh37
NC_000005.8:g.127720870T=	NCBI36
NG_008750.1:g.185765A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2671A= MANE Select	ENSP00000262464.4:p.Ile891=
ENST00000262464.8:c.2671A=	ENSP00000262464.4:p.Ile891=
ENST00000508053.5:c.2671A=	ENSP00000424571.1:p.Ile891=
ENST00000508989.5:c.2572A=	ENSP00000425596.1:p.Ile858=
ENST00000619499.4:c.2668A=	ENSP00000482132.1:p.Ile890=
NM_001999.3:c.2671A=	NP_001990.2:p.Ile891=
XM_017009228.2:c.2518A=	XP_016864717.1:p.Ile840=
NM_001999.4:c.2671A= MANE Select	NP_001990.2:p.Ile891=