Canonical Allele Identifier: CA1581293496
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128393086T= , CM000667.2:g.128393086T= GRCh38
NC_000005.9:g.127728779T= , CM000667.1:g.127728779T= GRCh37
NC_000005.8:g.127756678T= NCBI36
NG_008750.1:g.149957A=

Transcript Alleles

HGVS Amino-acid change
ENST00000703787.1:n.1172+49A=
ENST00000262464.9:c.1465+49A= MANE Select ENSP00000262464.4:n.1465+49A=
ENST00000262464.8:c.1465+49A= ENSP00000262464.4:n.1465+49A=
ENST00000508053.5:c.1465+49A= ENSP00000424571.1:n.1465+49A=
ENST00000508989.5:c.1366+49A= ENSP00000425596.1:n.1366+49A=
ENST00000619499.4:c.1462+49A= ENSP00000482132.1:n.1462+49A=
NM_001999.3:c.1465+49A= NP_001990.2:n.1465+49A=
XM_017009228.2:c.1312+49A= XP_016864717.1:n.1312+49A=
NM_001999.4:c.1465+49A= MANE Select NP_001990.2:n.1465+49A=