Canonical Allele Identifier: CA360754075

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666333A>T (hg19) ; chr5:g.128330641A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330641A>T , CM000667.2:g.128330641A>T	GRCh38
NC_000005.9:g.127666333A>T , CM000667.1:g.127666333A>T	GRCh37
NC_000005.8:g.127694232A>T	NCBI36
NG_008750.1:g.212403T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1061T>A
ENST00000703785.1:n.1142T>A
ENST00000262464.9:c.4277T>A MANE Select	ENSP00000262464.4:p.Val1426Glu
ENST00000262464.8:c.4277T>A	ENSP00000262464.4:p.Val1426Glu
ENST00000507835.5:c.827T>A	ENSP00000426839.1:p.Val276Glu
ENST00000508053.5:c.4277T>A	ENSP00000424571.1:p.Val1426Glu
ENST00000508989.5:c.4178T>A	ENSP00000425596.1:p.Val1393Glu
ENST00000619499.4:c.4274T>A	ENSP00000482132.1:p.Val1425Glu
NM_001999.3:c.4277T>A	NP_001990.2:p.Val1426Glu
XM_017009228.2:c.4124T>A	XP_016864717.1:p.Val1375Glu
NM_001999.4:c.4277T>A MANE Select	NP_001990.2:p.Val1426Glu