Canonical Allele Identifier: CA1581282287

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357390T= , CM000667.2:g.128357390T=	GRCh38
NC_000005.9:g.127693082T= , CM000667.1:g.127693082T=	GRCh37
NC_000005.8:g.127720981T=	NCBI36
NG_008750.1:g.185654A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2560A= MANE Select	ENSP00000262464.4:p.Asn854=
ENST00000262464.8:c.2560A=	ENSP00000262464.4:p.Asn854=
ENST00000508053.5:c.2560A=	ENSP00000424571.1:p.Asn854=
ENST00000508989.5:c.2461A=	ENSP00000425596.1:p.Asn821=
ENST00000619499.4:c.2557A=	ENSP00000482132.1:p.Asn853=
NM_001999.3:c.2560A=	NP_001990.2:p.Asn854=
XM_017009228.2:c.2407A=	XP_016864717.1:p.Asn803=
NM_001999.4:c.2560A= MANE Select	NP_001990.2:p.Asn854=