Canonical Allele Identifier: CA281515
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 523
ClinVar RCV Id: RCV000000552
dbSNP Id: rs587776519

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335592T>C , CM000667.2:g.128335592T>C GRCh38
NC_000005.9:g.127671284T>C , CM000667.1:g.127671284T>C GRCh37
NC_000005.8:g.127699183T>C NCBI36
NG_008750.1:g.207452A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.3725-15A>G MANE Select ENSP00000262464.4:n.3725-15A>G
ENST00000262464.8:c.3725-15A>G ENSP00000262464.4:n.3725-15A>G
ENST00000507835.5:c.275-15A>G ENSP00000426839.1:n.275-15A>G
ENST00000508053.5:c.3725-15A>G ENSP00000424571.1:n.3725-15A>G
ENST00000508989.5:c.3626-15A>G ENSP00000425596.1:n.3626-15A>G
ENST00000619499.4:n.3722-15A>G ENSP00000482132.1:n.3722-15A>G
NM_001999.3:c.3725-15A>G NP_001990.2:n.3725-15A>G
XM_017009228.2:c.3572-15A>G XP_016864717.1:n.3572-15A>G
NM_001999.4:c.3725-15A>G MANE Select NP_001990.2:n.3725-15A>G