Canonical Allele Identifier: CA1581270745

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338080C= , CM000667.2:g.128338080C=	GRCh38
NC_000005.9:g.127673772C= , CM000667.1:g.127673772C=	GRCh37
NC_000005.8:g.127701671C=	NCBI36
NG_008750.1:g.204964G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.299G=
ENST00000703785.1:n.380G=
ENST00000262464.9:c.3515G= MANE Select	ENSP00000262464.4:p.Gly1172=
ENST00000262464.8:c.3515G=	ENSP00000262464.4:p.Gly1172=
ENST00000507835.5:c.65G=	ENSP00000426839.1:p.Gly22=
ENST00000508053.5:c.3515G=	ENSP00000424571.1:p.Gly1172=
ENST00000508989.5:c.3416G=	ENSP00000425596.1:p.Gly1139=
ENST00000619499.4:c.3512G=	ENSP00000482132.1:p.Gly1171=
NM_001999.3:c.3515G=	NP_001990.2:p.Gly1172=
XM_017009228.2:c.3362G=	XP_016864717.1:p.Gly1121=
NM_001999.4:c.3515G= MANE Select	NP_001990.2:p.Gly1172=