Canonical Allele Identifier: CA1581269594
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335454C= , CM000667.2:g.128335454C= GRCh38
NC_000005.9:g.127671146C= , CM000667.1:g.127671146C= GRCh37
NC_000005.8:g.127699045C= NCBI36
NG_008750.1:g.207590G=

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.631+1G=
ENST00000703785.1:n.712+1G=
ENST00000262464.9:c.3847+1G= MANE Select ENSP00000262464.4:n.3847+1G=
ENST00000262464.8:c.3847+1G= ENSP00000262464.4:n.3847+1G=
ENST00000507835.5:c.397+1G= ENSP00000426839.1:n.397+1G=
ENST00000508053.5:c.3847+1G= ENSP00000424571.1:n.3847+1G=
ENST00000508989.5:c.3748+1G= ENSP00000425596.1:n.3748+1G=
ENST00000619499.4:c.3844+1G= ENSP00000482132.1:n.3844+1G=
NM_001999.3:c.3847+1G= NP_001990.2:n.3847+1G=
XM_017009228.2:c.3694+1G= XP_016864717.1:n.3694+1G=
NM_001999.4:c.3847+1G= MANE Select NP_001990.2:n.3847+1G=