Canonical Allele Identifier: CA1581270751

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338092A= , CM000667.2:g.128338092A=	GRCh38
NC_000005.9:g.127673784A= , CM000667.1:g.127673784A=	GRCh37
NC_000005.8:g.127701683A=	NCBI36
NG_008750.1:g.204952T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.287T=
ENST00000703785.1:n.368T=
ENST00000262464.9:c.3503T= MANE Select	ENSP00000262464.4:p.Leu1168=
ENST00000262464.8:c.3503T=	ENSP00000262464.4:p.Leu1168=
ENST00000507835.5:c.53T=	ENSP00000426839.1:p.Leu18=
ENST00000508053.5:c.3503T=	ENSP00000424571.1:p.Leu1168=
ENST00000508989.5:c.3404T=	ENSP00000425596.1:p.Leu1135=
ENST00000619499.4:c.3500T=	ENSP00000482132.1:p.Leu1167=
NM_001999.3:c.3503T=	NP_001990.2:p.Leu1168=
XM_017009228.2:c.3350T=	XP_016864717.1:p.Leu1117=
NM_001999.4:c.3503T= MANE Select	NP_001990.2:p.Leu1168=