Canonical Allele Identifier: CA360758097
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335548C>A , CM000667.2:g.128335548C>A GRCh38
NC_000005.9:g.127671240C>A , CM000667.1:g.127671240C>A GRCh37
NC_000005.8:g.127699139C>A NCBI36
NG_008750.1:g.207496G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.538G>T
ENST00000703785.1:n.619G>T
ENST00000262464.9:c.3754G>T MANE Select ENSP00000262464.4:p.Gly1252Cys
ENST00000262464.8:c.3754G>T ENSP00000262464.4:p.Gly1252Cys
ENST00000507835.5:c.304G>T ENSP00000426839.1:p.Gly102Cys
ENST00000508053.5:c.3754G>T ENSP00000424571.1:p.Gly1252Cys
ENST00000508989.5:c.3655G>T ENSP00000425596.1:p.Gly1219Cys
ENST00000619499.4:c.3751G>T ENSP00000482132.1:p.Gly1251Cys
NM_001999.3:c.3754G>T NP_001990.2:p.Gly1252Cys
XM_017009228.2:c.3601G>T XP_016864717.1:p.Gly1201Cys
NM_001999.4:c.3754G>T MANE Select NP_001990.2:p.Gly1252Cys