Canonical Allele Identifier: CA1581282278

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357343G= , CM000667.2:g.128357343G=	GRCh38
NC_000005.9:g.127693035G= , CM000667.1:g.127693035G=	GRCh37
NC_000005.8:g.127720934G=	NCBI36
NG_008750.1:g.185701C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2607C= MANE Select	ENSP00000262464.4:p.Asn869=
ENST00000262464.8:c.2607C=	ENSP00000262464.4:p.Asn869=
ENST00000508053.5:c.2607C=	ENSP00000424571.1:p.Asn869=
ENST00000508989.5:c.2508C=	ENSP00000425596.1:p.Asn836=
ENST00000619499.4:c.2604C=	ENSP00000482132.1:p.Asn868=
NM_001999.3:c.2607C=	NP_001990.2:p.Asn869=
XM_017009228.2:c.2454C=	XP_016864717.1:p.Asn818=
NM_001999.4:c.2607C= MANE Select	NP_001990.2:p.Asn869=