Canonical Allele Identifier: CA1581270736

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338061C= , CM000667.2:g.128338061C=	GRCh38
NC_000005.9:g.127673753C= , CM000667.1:g.127673753C=	GRCh37
NC_000005.8:g.127701652C=	NCBI36
NG_008750.1:g.204983G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.318G=
ENST00000703785.1:n.399G=
ENST00000262464.9:c.3534G= MANE Select	ENSP00000262464.4:p.Glu1178=
ENST00000262464.8:c.3534G=	ENSP00000262464.4:p.Glu1178=
ENST00000507835.5:c.84G=	ENSP00000426839.1:p.Glu28=
ENST00000508053.5:c.3534G=	ENSP00000424571.1:p.Glu1178=
ENST00000508989.5:c.3435G=	ENSP00000425596.1:p.Glu1145=
ENST00000619499.4:c.3531G=	ENSP00000482132.1:p.Glu1177=
NM_001999.3:c.3534G=	NP_001990.2:p.Glu1178=
XM_017009228.2:c.3381G=	XP_016864717.1:p.Glu1127=
NM_001999.4:c.3534G= MANE Select	NP_001990.2:p.Glu1178=