Canonical Allele Identifier: CA281513
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 520
ClinVar RCV Id: RCV000000549
dbSNP Id: rs137852826

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395182C>T , CM000667.2:g.128395182C>T GRCh38
NC_000005.9:g.127730875C>T , CM000667.1:g.127730875C>T GRCh37
NC_000005.8:g.127758774C>T NCBI36
NG_008750.1:g.147861G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.1171G>A MANE Select ENSP00000262464.4:p.Glu391Lys
ENST00000262464.8:c.1171G>A ENSP00000262464.4:p.Glu391Lys
ENST00000508053.5:c.1171G>A ENSP00000424571.1:p.Glu391Lys
ENST00000508989.5:c.1072G>A ENSP00000425596.1:p.Glu358Lys
ENST00000619499.4:n.1168G>A ENSP00000482132.1:p.Glu390Lys
NM_001999.3:c.1171G>A NP_001990.2:p.Glu391Lys
XM_017009228.2:c.1079-1814G>A XP_016864717.1:n.1079-1814G>A
NM_001999.4:c.1171G>A MANE Select NP_001990.2:p.Glu391Lys