Canonical Allele Identifier: CA1581293512
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128393107A= , CM000667.2:g.128393107A= GRCh38
NC_000005.9:g.127728800A= , CM000667.1:g.127728800A= GRCh37
NC_000005.8:g.127756699A= NCBI36
NG_008750.1:g.149936T=

Transcript Alleles

HGVS Amino-acid change
ENST00000703787.1:n.1172+28T=
ENST00000262464.9:c.1465+28T= MANE Select ENSP00000262464.4:n.1465+28T=
ENST00000262464.8:c.1465+28T= ENSP00000262464.4:n.1465+28T=
ENST00000508053.5:c.1465+28T= ENSP00000424571.1:n.1465+28T=
ENST00000508989.5:c.1366+28T= ENSP00000425596.1:n.1366+28T=
ENST00000619499.4:c.1462+28T= ENSP00000482132.1:n.1462+28T=
NM_001999.3:c.1465+28T= NP_001990.2:n.1465+28T=
XM_017009228.2:c.1312+28T= XP_016864717.1:n.1312+28T=
NM_001999.4:c.1465+28T= MANE Select NP_001990.2:n.1465+28T=