Canonical Allele Identifier: CA360761701

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127680093C>G (hg19) ; chr5:g.128344401C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344401C>G , CM000667.2:g.128344401C>G	GRCh38
NC_000005.9:g.127680093C>G , CM000667.1:g.127680093C>G	GRCh37
NC_000005.8:g.127707992C>G	NCBI36
NG_008750.1:g.198643G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.3327G>C MANE Select	ENSP00000262464.4:p.Glu1109Asp
ENST00000262464.8:c.3327G>C	ENSP00000262464.4:p.Glu1109Asp
ENST00000508053.5:c.3327G>C	ENSP00000424571.1:p.Glu1109Asp
ENST00000508989.5:c.3228G>C	ENSP00000425596.1:p.Glu1076Asp
ENST00000619499.4:c.3324G>C	ENSP00000482132.1:p.Glu1108Asp
NM_001999.3:c.3327G>C	NP_001990.2:p.Glu1109Asp
XM_017009228.2:c.3174G>C	XP_016864717.1:p.Glu1058Asp
NM_001999.4:c.3327G>C MANE Select	NP_001990.2:p.Glu1109Asp