Canonical Allele Identifier: CA360755124
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128332983C>A , CM000667.2:g.128332983C>A GRCh38
NC_000005.9:g.127668675C>A , CM000667.1:g.127668675C>A GRCh37
NC_000005.8:g.127696574C>A NCBI36
NG_008750.1:g.210061G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.935G>T
ENST00000703785.1:n.1016G>T
ENST00000262464.9:c.4151G>T MANE Select ENSP00000262464.4:p.Cys1384Phe
ENST00000262464.8:c.4151G>T ENSP00000262464.4:p.Cys1384Phe
ENST00000507835.5:c.701G>T ENSP00000426839.1:p.Cys234Phe
ENST00000508053.5:c.4151G>T ENSP00000424571.1:p.Cys1384Phe
ENST00000508989.5:c.4052G>T ENSP00000425596.1:p.Cys1351Phe
ENST00000619499.4:c.4148G>T ENSP00000482132.1:p.Cys1383Phe
NM_001999.3:c.4151G>T NP_001990.2:p.Cys1384Phe
XM_017009228.2:c.3998G>T XP_016864717.1:p.Cys1333Phe
NM_001999.4:c.4151G>T MANE Select NP_001990.2:p.Cys1384Phe