Canonical Allele Identifier: CA446310095

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670971T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335279T>C , CM000667.2:g.128335279T>C	GRCh38
NC_000005.9:g.127670971T>C , CM000667.1:g.127670971T>C	GRCh37
NC_000005.8:g.127698870T>C	NCBI36
NG_008750.1:g.207765A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.648A>G
ENST00000703785.1:n.729A>G
ENST00000262464.9:c.3864A>G MANE Select	ENSP00000262464.4:p.Glu1288=
ENST00000262464.8:c.3864A>G	ENSP00000262464.4:p.Glu1288=
ENST00000507835.5:c.414A>G	ENSP00000426839.1:p.Glu138=
ENST00000508053.5:c.3864A>G	ENSP00000424571.1:p.Glu1288=
ENST00000508989.5:c.3765A>G	ENSP00000425596.1:p.Glu1255=
ENST00000619499.4:c.3861A>G	ENSP00000482132.1:p.Glu1287=
NM_001999.3:c.3864A>G	NP_001990.2:p.Glu1288=
XM_017009228.2:c.3711A>G	XP_016864717.1:p.Glu1237=
NM_001999.4:c.3864A>G MANE Select	NP_001990.2:p.Glu1288=