Canonical Allele Identifier: CA360758663

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127863651C>G (hg19) ; chr5:g.128527958C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527958C>G , CM000667.2:g.128527958C>G	GRCh38
NC_000005.9:g.127863651C>G , CM000667.1:g.127863651C>G	GRCh37
NC_000005.8:g.127891550C>G	NCBI36
NG_008750.1:g.15085G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508053.6:c.446G>C	ENSP00000424571.2:p.Cys149Ser
ENST00000703787.1:n.153G>C
ENST00000262464.9:c.446G>C MANE Select	ENSP00000262464.4:p.Cys149Ser
ENST00000262464.8:c.446G>C	ENSP00000262464.4:p.Cys149Ser
ENST00000502468.5:c.446G>C	ENSP00000424753.1:p.Cys149Ser
ENST00000508053.5:c.446G>C	ENSP00000424571.1:p.Cys149Ser
ENST00000508989.5:c.347G>C	ENSP00000425596.1:p.Cys116Ser
ENST00000514742.1:n.1066G>C
ENST00000619499.4:c.446G>C	ENSP00000482132.1:p.Cys149Ser
ENST00000620257.1:c.446G>C	ENSP00000479157.1:p.Cys149Ser
NM_001999.3:c.446G>C	NP_001990.2:p.Cys149Ser
XM_017009228.2:c.446G>C	XP_016864717.1:p.Cys149Ser
NM_001999.4:c.446G>C MANE Select	NP_001990.2:p.Cys149Ser