Canonical Allele Identifier: CA446311194

Gene: FBN2

Linked Data

• gnomAD v4: 5-128344401-C-T
• MyVariant Identifiers: chr5:g.127680093C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344401C>T , CM000667.2:g.128344401C>T	GRCh38
NC_000005.9:g.127680093C>T , CM000667.1:g.127680093C>T	GRCh37
NC_000005.8:g.127707992C>T	NCBI36
NG_008750.1:g.198643G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.3327G>A MANE Select	ENSP00000262464.4:p.Glu1109=
ENST00000262464.8:c.3327G>A	ENSP00000262464.4:p.Glu1109=
ENST00000508053.5:c.3327G>A	ENSP00000424571.1:p.Glu1109=
ENST00000508989.5:c.3228G>A	ENSP00000425596.1:p.Glu1076=
ENST00000619499.4:c.3324G>A	ENSP00000482132.1:p.Glu1108=
NM_001999.3:c.3327G>A	NP_001990.2:p.Glu1109=
XM_017009228.2:c.3174G>A	XP_016864717.1:p.Glu1058=
NM_001999.4:c.3327G>A MANE Select	NP_001990.2:p.Glu1109=