Canonical Allele Identifier: CA446309546

Gene: FBN2

Linked Data

• ClinVar Variation Id: 905541
• ClinVar RCV Id: RCV001154112
• dbSNP Id: rs1205541313
• MyVariant Identifiers: chr5:g.127668716C>T (hg19) ; chr5:g.128333024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333024C>T , CM000667.2:g.128333024C>T	GRCh38
NC_000005.9:g.127668716C>T , CM000667.1:g.127668716C>T	GRCh37
NC_000005.8:g.127696615C>T	NCBI36
NG_008750.1:g.210020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.894G>A
ENST00000703785.1:n.975G>A
ENST00000262464.9:c.4110G>A MANE Select	ENSP00000262464.4:p.Glu1370=
ENST00000262464.8:c.4110G>A	ENSP00000262464.4:p.Glu1370=
ENST00000507835.5:c.660G>A	ENSP00000426839.1:p.Glu220=
ENST00000508053.5:c.4110G>A	ENSP00000424571.1:p.Glu1370=
ENST00000508989.5:c.4011G>A	ENSP00000425596.1:p.Glu1337=
ENST00000619499.4:c.4107G>A	ENSP00000482132.1:p.Glu1369=
NM_001999.3:c.4110G>A	NP_001990.2:p.Glu1370=
XM_017009228.2:c.3957G>A	XP_016864717.1:p.Glu1319=
NM_001999.4:c.4110G>A MANE Select	NP_001990.2:p.Glu1370=