Canonical Allele Identifier: CA10622580
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 350780
ClinVar RCV Id: RCV000264456
dbSNP Id: rs886059901

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338976G>T , CM000667.2:g.128338976G>T GRCh38
NC_000005.9:g.127674668G>T , CM000667.1:g.127674668G>T GRCh37
NC_000005.8:g.127702567G>T NCBI36
NG_008750.1:g.204068C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.213C>A
ENST00000703785.1:n.294C>A
ENST00000262464.9:c.3429C>A MANE Select ENSP00000262464.4:p.Phe1143Leu
ENST00000262464.8:c.3429C>A ENSP00000262464.4:p.Phe1143Leu
ENST00000507835.5:c.-22C>A ENSP00000426839.1:n.-22C>A
ENST00000508053.5:c.3429C>A ENSP00000424571.1:p.Phe1143Leu
ENST00000508989.5:c.3330C>A ENSP00000425596.1:p.Phe1110Leu
ENST00000619499.4:c.3426C>A ENSP00000482132.1:p.Phe1142Leu
NM_001999.3:c.3429C>A NP_001990.2:p.Phe1143Leu
XM_017009228.2:c.3276C>A XP_016864717.1:p.Phe1092Leu
NM_001999.4:c.3429C>A MANE Select NP_001990.2:p.Phe1143Leu