Canonical Allele Identifier: CA15373574
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs10057405

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128317330A>C , CM000667.2:g.128317330A>C GRCh38
NC_000005.9:g.127653022A>C , CM000667.1:g.127653022A>C GRCh37
NC_000005.8:g.127680921A>C NCBI36
NG_008750.1:g.225714T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.4717+819T>G MANE Select ENSP00000262464.4:p.=
ENST00000262464.8:c.4717+819T>G ENSP00000262464.4:p.=
ENST00000508053.5:c.4717+819T>G ENSP00000424571.1:p.=
ENST00000619499.4:n.4714+819T>G ENSP00000482132.1:p.=
NM_001999.3:c.4717+819T>G NP_001990.2:p.=
XM_017009228.2:c.4564+819T>G XP_016864717.1:p.=
NM_001999.4:c.4717+819T>G MANE Select NP_001990.2:p.=