Canonical Allele Identifier: CA2675116772
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128333065C>T , CM000667.2:g.128333065C>T GRCh38
NC_000005.9:g.127668757C>T , CM000667.1:g.127668757C>T GRCh37
NC_000005.8:g.127696656C>T NCBI36
NG_008750.1:g.209979G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.884-31G>A
ENST00000703785.1:n.965-31G>A
ENST00000262464.9:c.4100-31G>A MANE Select ENSP00000262464.4:n.4100-31G>A
ENST00000262464.8:c.4100-31G>A ENSP00000262464.4:n.4100-31G>A
ENST00000507835.5:c.650-31G>A ENSP00000426839.1:n.650-31G>A
ENST00000508053.5:c.4100-31G>A ENSP00000424571.1:n.4100-31G>A
ENST00000508989.5:c.4001-31G>A ENSP00000425596.1:n.4001-31G>A
ENST00000619499.4:c.4097-31G>A ENSP00000482132.1:n.4097-31G>A
NM_001999.3:c.4100-31G>A NP_001990.2:n.4100-31G>A
XM_017009228.2:c.3947-31G>A XP_016864717.1:n.3947-31G>A
NM_001999.4:c.4100-31G>A MANE Select NP_001990.2:n.4100-31G>A