Canonical Allele Identifier: CA1581267385

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330688G= , CM000667.2:g.128330688G=	GRCh38
NC_000005.9:g.127666380G= , CM000667.1:g.127666380G=	GRCh37
NC_000005.8:g.127694279G=	NCBI36
NG_008750.1:g.212356C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1014C=
ENST00000703785.1:n.1095C=
ENST00000262464.9:c.4230C= MANE Select	ENSP00000262464.4:p.Asp1410=
ENST00000262464.8:c.4230C=	ENSP00000262464.4:p.Asp1410=
ENST00000507835.5:c.780C=	ENSP00000426839.1:p.Asp260=
ENST00000508053.5:c.4230C=	ENSP00000424571.1:p.Asp1410=
ENST00000508989.5:c.4131C=	ENSP00000425596.1:p.Asp1377=
ENST00000619499.4:c.4227C=	ENSP00000482132.1:p.Asp1409=
NM_001999.3:c.4230C=	NP_001990.2:p.Asp1410=
XM_017009228.2:c.4077C=	XP_016864717.1:p.Asp1359=
NM_001999.4:c.4230C= MANE Select	NP_001990.2:p.Asp1410=