Canonical Allele Identifier: CA1581269468
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335164A= , CM000667.2:g.128335164A= GRCh38
NC_000005.9:g.127670856A= , CM000667.1:g.127670856A= GRCh37
NC_000005.8:g.127698755A= NCBI36
NG_008750.1:g.207880T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.757+6T=
ENST00000703785.1:n.838+6T=
ENST00000262464.9:c.3973+6T= MANE Select ENSP00000262464.4:n.3973+6T=
ENST00000262464.8:c.3973+6T= ENSP00000262464.4:n.3973+6T=
ENST00000507835.5:c.523+6T= ENSP00000426839.1:n.523+6T=
ENST00000508053.5:c.3973+6T= ENSP00000424571.1:n.3973+6T=
ENST00000508989.5:c.3874+6T= ENSP00000425596.1:n.3874+6T=
ENST00000619499.4:c.3970+6T= ENSP00000482132.1:n.3970+6T=
NM_001999.3:c.3973+6T= NP_001990.2:n.3973+6T=
XM_017009228.2:c.3820+6T= XP_016864717.1:n.3820+6T=
NM_001999.4:c.3973+6T= MANE Select NP_001990.2:n.3973+6T=