Canonical Allele Identifier: CA1581269612

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335510G= , CM000667.2:g.128335510G=	GRCh38
NC_000005.9:g.127671202G= , CM000667.1:g.127671202G=	GRCh37
NC_000005.8:g.127699101G=	NCBI36
NG_008750.1:g.207534C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.576C=
ENST00000703785.1:n.657C=
ENST00000262464.9:c.3792C= MANE Select	ENSP00000262464.4:p.Tyr1264=
ENST00000262464.8:c.3792C=	ENSP00000262464.4:p.Tyr1264=
ENST00000507835.5:c.342C=	ENSP00000426839.1:p.Tyr114=
ENST00000508053.5:c.3792C=	ENSP00000424571.1:p.Tyr1264=
ENST00000508989.5:c.3693C=	ENSP00000425596.1:p.Tyr1231=
ENST00000619499.4:c.3789C=	ENSP00000482132.1:p.Tyr1263=
NM_001999.3:c.3792C=	NP_001990.2:p.Tyr1264=
XM_017009228.2:c.3639C=	XP_016864717.1:p.Tyr1213=
NM_001999.4:c.3792C= MANE Select	NP_001990.2:p.Tyr1264=