Canonical Allele Identifier: CA360755354

Gene: FBN2

Linked Data

• gnomAD v4: 5-128333014-C-T
• MyVariant Identifiers: chr5:g.127668706C>T (hg19) ; chr5:g.128333014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333014C>T , CM000667.2:g.128333014C>T	GRCh38
NC_000005.9:g.127668706C>T , CM000667.1:g.127668706C>T	GRCh37
NC_000005.8:g.127696605C>T	NCBI36
NG_008750.1:g.210030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.904G>A
ENST00000703785.1:n.985G>A
ENST00000262464.9:c.4120G>A MANE Select	ENSP00000262464.4:p.Gly1374Ser
ENST00000262464.8:c.4120G>A	ENSP00000262464.4:p.Gly1374Ser
ENST00000507835.5:c.670G>A	ENSP00000426839.1:p.Gly224Ser
ENST00000508053.5:c.4120G>A	ENSP00000424571.1:p.Gly1374Ser
ENST00000508989.5:c.4021G>A	ENSP00000425596.1:p.Gly1341Ser
ENST00000619499.4:c.4117G>A	ENSP00000482132.1:p.Gly1373Ser
NM_001999.3:c.4120G>A	NP_001990.2:p.Gly1374Ser
XM_017009228.2:c.3967G>A	XP_016864717.1:p.Gly1323Ser
NM_001999.4:c.4120G>A MANE Select	NP_001990.2:p.Gly1374Ser