Canonical Allele Identifier: CA1581268475
Gene: FBN2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128333159T= , CM000667.2:g.128333159T= GRCh38
NC_000005.9:g.127668851T= , CM000667.1:g.127668851T= GRCh37
NC_000005.8:g.127696750T= NCBI36
NG_008750.1:g.209885A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.884-125A=
ENST00000703785.1:n.965-125A=
ENST00000262464.9:c.4100-125A= MANE Select ENSP00000262464.4:n.4100-125A=
ENST00000262464.8:c.4100-125A= ENSP00000262464.4:n.4100-125A=
ENST00000507835.5:c.650-125A= ENSP00000426839.1:n.650-125A=
ENST00000508053.5:c.4100-125A= ENSP00000424571.1:n.4100-125A=
ENST00000508989.5:c.4001-125A= ENSP00000425596.1:n.4001-125A=
ENST00000619499.4:c.4097-125A= ENSP00000482132.1:n.4097-125A=
NM_001999.3:c.4100-125A= NP_001990.2:n.4100-125A=
XM_017009228.2:c.3947-125A= XP_016864717.1:n.3947-125A=
NM_001999.4:c.4100-125A= MANE Select NP_001990.2:n.4100-125A=
Search 100 bp 5'
Search 100 bp 3'