Canonical Allele Identifier: CA446310051

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670887A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335195A>T , CM000667.2:g.128335195A>T	GRCh38
NC_000005.9:g.127670887A>T , CM000667.1:g.127670887A>T	GRCh37
NC_000005.8:g.127698786A>T	NCBI36
NG_008750.1:g.207849T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.732T>A
ENST00000703785.1:n.813T>A
ENST00000262464.9:c.3948T>A MANE Select	ENSP00000262464.4:p.Ala1316=
ENST00000262464.8:c.3948T>A	ENSP00000262464.4:p.Ala1316=
ENST00000507835.5:c.498T>A	ENSP00000426839.1:p.Ala166=
ENST00000508053.5:c.3948T>A	ENSP00000424571.1:p.Ala1316=
ENST00000508989.5:c.3849T>A	ENSP00000425596.1:p.Ala1283=
ENST00000619499.4:c.3945T>A	ENSP00000482132.1:p.Ala1315=
NM_001999.3:c.3948T>A	NP_001990.2:p.Ala1316=
XM_017009228.2:c.3795T>A	XP_016864717.1:p.Ala1265=
NM_001999.4:c.3948T>A MANE Select	NP_001990.2:p.Ala1316=