Canonical Allele Identifier: CA3395021
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 519814
ClinVar RCV Id: RCV002313295
dbSNP Id: rs757117534

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330661A>G , CM000667.2:g.128330661A>G GRCh38
NC_000005.9:g.127666353A>G , CM000667.1:g.127666353A>G GRCh37
NC_000005.8:g.127694252A>G NCBI36
NG_008750.1:g.212383T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.1041T>C
ENST00000703785.1:n.1122T>C
ENST00000262464.9:c.4257T>C MANE Select ENSP00000262464.4:p.Cys1419=
ENST00000262464.8:c.4257T>C ENSP00000262464.4:p.Cys1419=
ENST00000507835.5:c.807T>C ENSP00000426839.1:p.Cys269=
ENST00000508053.5:c.4257T>C ENSP00000424571.1:p.Cys1419=
ENST00000508989.5:c.4158T>C ENSP00000425596.1:p.Cys1386=
ENST00000619499.4:c.4254T>C ENSP00000482132.1:p.Cys1418=
NM_001999.3:c.4257T>C NP_001990.2:p.Cys1419=
XM_017009228.2:c.4104T>C XP_016864717.1:p.Cys1368=
NM_001999.4:c.4257T>C MANE Select NP_001990.2:p.Cys1419=