Canonical Allele Identifier: CA1581270718

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338004G= , CM000667.2:g.128338004G=	GRCh38
NC_000005.9:g.127673696G= , CM000667.1:g.127673696G=	GRCh37
NC_000005.8:g.127701595G=	NCBI36
NG_008750.1:g.205040C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.375C=
ENST00000703785.1:n.456C=
ENST00000262464.9:c.3591C= MANE Select	ENSP00000262464.4:p.Asp1197=
ENST00000262464.8:c.3591C=	ENSP00000262464.4:p.Asp1197=
ENST00000507835.5:c.141C=	ENSP00000426839.1:p.Asp47=
ENST00000508053.5:c.3591C=	ENSP00000424571.1:p.Asp1197=
ENST00000508989.5:c.3492C=	ENSP00000425596.1:p.Asp1164=
ENST00000619499.4:c.3588C=	ENSP00000482132.1:p.Asp1196=
NM_001999.3:c.3591C=	NP_001990.2:p.Asp1197=
XM_017009228.2:c.3438C=	XP_016864717.1:p.Asp1146=
NM_001999.4:c.3591C= MANE Select	NP_001990.2:p.Asp1197=