Canonical Allele Identifier: CA1581269632

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335556A= , CM000667.2:g.128335556A=	GRCh38
NC_000005.9:g.127671248A= , CM000667.1:g.127671248A=	GRCh37
NC_000005.8:g.127699147A=	NCBI36
NG_008750.1:g.207488T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.530T=
ENST00000703785.1:n.611T=
ENST00000262464.9:c.3746T= MANE Select	ENSP00000262464.4:p.Met1249=
ENST00000262464.8:c.3746T=	ENSP00000262464.4:p.Met1249=
ENST00000507835.5:c.296T=	ENSP00000426839.1:p.Met99=
ENST00000508053.5:c.3746T=	ENSP00000424571.1:p.Met1249=
ENST00000508989.5:c.3647T=	ENSP00000425596.1:p.Met1216=
ENST00000619499.4:c.3743T=	ENSP00000482132.1:p.Met1248=
NM_001999.3:c.3746T=	NP_001990.2:p.Met1249=
XM_017009228.2:c.3593T=	XP_016864717.1:p.Met1198=
NM_001999.4:c.3746T= MANE Select	NP_001990.2:p.Met1249=