Canonical Allele Identifier: CA1581273709
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128344350A= , CM000667.2:g.128344350A= GRCh38
NC_000005.9:g.127680042A= , CM000667.1:g.127680042A= GRCh37
NC_000005.8:g.127707941A= NCBI36
NG_008750.1:g.198694T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.3343+35T= MANE Select ENSP00000262464.4:n.3343+35T=
ENST00000262464.8:c.3343+35T= ENSP00000262464.4:n.3343+35T=
ENST00000508053.5:c.3343+35T= ENSP00000424571.1:n.3343+35T=
ENST00000508989.5:c.3244+35T= ENSP00000425596.1:n.3244+35T=
ENST00000619499.4:c.3340+35T= ENSP00000482132.1:n.3340+35T=
NM_001999.3:c.3343+35T= NP_001990.2:n.3343+35T=
XM_017009228.2:c.3190+35T= XP_016864717.1:n.3190+35T=
NM_001999.4:c.3343+35T= MANE Select NP_001990.2:n.3343+35T=