Canonical Allele Identifier: CA3395113
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 377867
dbSNP Id: rs140017238

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335305C>T , CM000667.2:g.128335305C>T GRCh38
NC_000005.9:g.127670997C>T , CM000667.1:g.127670997C>T GRCh37
NC_000005.8:g.127698896C>T NCBI36
NG_008750.1:g.207739G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.632-10G>A
ENST00000703785.1:n.713-10G>A
ENST00000262464.9:c.3848-10G>A MANE Select ENSP00000262464.4:n.3848-10G>A
ENST00000262464.8:c.3848-10G>A ENSP00000262464.4:n.3848-10G>A
ENST00000507835.5:c.398-10G>A ENSP00000426839.1:n.398-10G>A
ENST00000508053.5:c.3848-10G>A ENSP00000424571.1:n.3848-10G>A
ENST00000508989.5:c.3749-10G>A ENSP00000425596.1:n.3749-10G>A
ENST00000619499.4:c.3845-10G>A ENSP00000482132.1:n.3845-10G>A
NM_001999.3:c.3848-10G>A NP_001990.2:n.3848-10G>A
XM_017009228.2:c.3695-10G>A XP_016864717.1:n.3695-10G>A
NM_001999.4:c.3848-10G>A MANE Select NP_001990.2:n.3848-10G>A