Canonical Allele Identifier: CA281517
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 526
ClinVar RCV Id: RCV000000555
dbSNP Id: rs137852828

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338980C>A , CM000667.2:g.128338980C>A GRCh38
NC_000005.9:g.127674672C>A , CM000667.1:g.127674672C>A GRCh37
NC_000005.8:g.127702571C>A NCBI36
NG_008750.1:g.204064G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.3425G>T MANE Select ENSP00000262464.4:p.Cys1142Phe
ENST00000262464.8:c.3425G>T ENSP00000262464.4:p.Cys1142Phe
ENST00000507835.5:c.-26G>T ENSP00000426839.1:n.-26G>T
ENST00000508053.5:c.3425G>T ENSP00000424571.1:p.Cys1142Phe
ENST00000508989.5:c.3326G>T ENSP00000425596.1:p.Cys1109Phe
ENST00000619499.4:n.3422G>T ENSP00000482132.1:p.Cys1141Phe
NM_001999.3:c.3425G>T NP_001990.2:p.Cys1142Phe
XM_017009228.2:c.3272G>T XP_016864717.1:p.Cys1091Phe
NM_001999.4:c.3425G>T MANE Select NP_001990.2:p.Cys1142Phe