Canonical Allele Identifier: CA360758579

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127863614A>C (hg19) ; chr5:g.128527921A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527921A>C , CM000667.2:g.128527921A>C	GRCh38
NC_000005.9:g.127863614A>C , CM000667.1:g.127863614A>C	GRCh37
NC_000005.8:g.127891513A>C	NCBI36
NG_008750.1:g.15122T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000508053.6:c.483T>G	ENSP00000424571.2:p.Asp161Glu
ENST00000703787.1:n.190T>G
ENST00000262464.9:c.483T>G MANE Select	ENSP00000262464.4:p.Asp161Glu
ENST00000262464.8:c.483T>G	ENSP00000262464.4:p.Asp161Glu
ENST00000502468.5:c.483T>G	ENSP00000424753.1:p.Asp161Glu
ENST00000508053.5:c.483T>G	ENSP00000424571.1:p.Asp161Glu
ENST00000508989.5:c.384T>G	ENSP00000425596.1:p.Asp128Glu
ENST00000514742.1:n.1103T>G
ENST00000619499.4:c.483T>G	ENSP00000482132.1:p.Asp161Glu
ENST00000620257.1:c.483T>G	ENSP00000479157.1:p.Asp161Glu
NM_001999.3:c.483T>G	NP_001990.2:p.Asp161Glu
XM_017009228.2:c.483T>G	XP_016864717.1:p.Asp161Glu
NM_001999.4:c.483T>G MANE Select	NP_001990.2:p.Asp161Glu