Canonical Allele Identifier: CA446310179

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671259T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335567T>C , CM000667.2:g.128335567T>C	GRCh38
NC_000005.9:g.127671259T>C , CM000667.1:g.127671259T>C	GRCh37
NC_000005.8:g.127699158T>C	NCBI36
NG_008750.1:g.207477A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.519A>G
ENST00000703785.1:n.600A>G
ENST00000262464.9:c.3735A>G MANE Select	ENSP00000262464.4:p.Glu1245=
ENST00000262464.8:c.3735A>G	ENSP00000262464.4:p.Glu1245=
ENST00000507835.5:c.285A>G	ENSP00000426839.1:p.Glu95=
ENST00000508053.5:c.3735A>G	ENSP00000424571.1:p.Glu1245=
ENST00000508989.5:c.3636A>G	ENSP00000425596.1:p.Glu1212=
ENST00000619499.4:c.3732A>G	ENSP00000482132.1:p.Glu1244=
NM_001999.3:c.3735A>G	NP_001990.2:p.Glu1245=
XM_017009228.2:c.3582A>G	XP_016864717.1:p.Glu1194=
NM_001999.4:c.3735A>G MANE Select	NP_001990.2:p.Glu1245=