Canonical Allele Identifier: CA446306400

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127640743A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305051A>T , CM000667.2:g.128305051A>T	GRCh38
NC_000005.9:g.127640743A>T , CM000667.1:g.127640743A>T	GRCh37
NC_000005.8:g.127668642A>T	NCBI36
NG_008750.1:g.237993T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2490T>A
ENST00000703785.1:n.2409T>A
ENST00000262464.9:c.5706T>A MANE Select	ENSP00000262464.4:p.Val1902=
ENST00000262464.8:c.5706T>A	ENSP00000262464.4:p.Val1902=
ENST00000508053.5:c.5706T>A	ENSP00000424571.1:p.Val1902=
ENST00000619499.4:c.5703T>A	ENSP00000482132.1:p.Val1901=
NM_001999.3:c.5706T>A	NP_001990.2:p.Val1902=
XM_017009228.2:c.5553T>A	XP_016864717.1:p.Val1851=
NM_001999.4:c.5706T>A MANE Select	NP_001990.2:p.Val1902=