Canonical Allele Identifier: CA446306698

Gene: FBN2

Linked Data

• gnomAD v4: 5-128274649-G-A
• MyVariant Identifiers: chr5:g.127610341G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128274649G>A , CM000667.2:g.128274649G>A	GRCh38
NC_000005.9:g.127610341G>A , CM000667.1:g.127610341G>A	GRCh37
NC_000005.8:g.127638240G>A	NCBI36
NG_008750.1:g.268395C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.4413C>T
ENST00000262464.9:c.7629C>T MANE Select	ENSP00000262464.4:p.Cys2543=
ENST00000262464.8:c.7629C>T	ENSP00000262464.4:p.Cys2543=
ENST00000508053.5:c.7629C>T	ENSP00000424571.1:p.Cys2543=
ENST00000619499.4:c.7626C>T	ENSP00000482132.1:p.Cys2542=
NM_001999.3:c.7629C>T	NP_001990.2:p.Cys2543=
XM_017009228.2:c.7476C>T	XP_016864717.1:p.Cys2492=
NM_001999.4:c.7629C>T MANE Select	NP_001990.2:p.Cys2543=