Canonical Allele Identifier: CA1581270741

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338075A= , CM000667.2:g.128338075A=	GRCh38
NC_000005.9:g.127673767A= , CM000667.1:g.127673767A=	GRCh37
NC_000005.8:g.127701666A=	NCBI36
NG_008750.1:g.204969T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.304T=
ENST00000703785.1:n.385T=
ENST00000262464.9:c.3520T= MANE Select	ENSP00000262464.4:p.Cys1174=
ENST00000262464.8:c.3520T=	ENSP00000262464.4:p.Cys1174=
ENST00000507835.5:c.70T=	ENSP00000426839.1:p.Cys24=
ENST00000508053.5:c.3520T=	ENSP00000424571.1:p.Cys1174=
ENST00000508989.5:c.3421T=	ENSP00000425596.1:p.Cys1141=
ENST00000619499.4:c.3517T=	ENSP00000482132.1:p.Cys1173=
NM_001999.3:c.3520T=	NP_001990.2:p.Cys1174=
XM_017009228.2:c.3367T=	XP_016864717.1:p.Cys1123=
NM_001999.4:c.3520T= MANE Select	NP_001990.2:p.Cys1174=