Canonical Allele Identifier: CA446309244

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666341A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330649A>T , CM000667.2:g.128330649A>T	GRCh38
NC_000005.9:g.127666341A>T , CM000667.1:g.127666341A>T	GRCh37
NC_000005.8:g.127694240A>T	NCBI36
NG_008750.1:g.212395T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1053T>A
ENST00000703785.1:n.1134T>A
ENST00000262464.9:c.4269T>A MANE Select	ENSP00000262464.4:p.Ala1423=
ENST00000262464.8:c.4269T>A	ENSP00000262464.4:p.Ala1423=
ENST00000507835.5:c.819T>A	ENSP00000426839.1:p.Ala273=
ENST00000508053.5:c.4269T>A	ENSP00000424571.1:p.Ala1423=
ENST00000508989.5:c.4170T>A	ENSP00000425596.1:p.Ala1390=
ENST00000619499.4:c.4266T>A	ENSP00000482132.1:p.Ala1422=
NM_001999.3:c.4269T>A	NP_001990.2:p.Ala1423=
XM_017009228.2:c.4116T>A	XP_016864717.1:p.Ala1372=
NM_001999.4:c.4269T>A MANE Select	NP_001990.2:p.Ala1423=