Canonical Allele Identifier: CA10620094
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 350740
ClinVar RCV Id: RCV000380009
dbSNP Id: rs754492977

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128258710G>C , CM000667.2:g.128258710G>C GRCh38
NC_000005.9:g.127594402G>C , CM000667.1:g.127594402G>C GRCh37
NC_000005.8:g.127622301G>C NCBI36
NG_008750.1:g.284334C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.*745C>G MANE Select ENSP00000262464.4:n.*745C>G
ENST00000262464.8:c.*745C>G ENSP00000262464.4:n.*745C>G
ENST00000508053.5:c.*745C>G ENSP00000424571.1:n.*745C>G
ENST00000619499.4:c.9481C>G ENSP00000482132.1:n.9481C>G
NM_001999.3:c.*745C>G NP_001990.2:n.*745C>G
NM_001999.4:c.*745C>G MANE Select NP_001990.2:n.*745C>G