Canonical Allele Identifier: CA360758099
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.538G>A
ENST00000703785.1:n.619G>A
ENST00000262464.9:c.3754G>A MANE Select ENSP00000262464.4:p.Gly1252Ser
ENST00000262464.8:c.3754G>A ENSP00000262464.4:p.Gly1252Ser
ENST00000507835.5:c.304G>A ENSP00000426839.1:p.Gly102Ser
ENST00000508053.5:c.3754G>A ENSP00000424571.1:p.Gly1252Ser
ENST00000508989.5:c.3655G>A ENSP00000425596.1:p.Gly1219Ser
ENST00000619499.4:c.3751G>A ENSP00000482132.1:p.Gly1251Ser
NM_001999.3:c.3754G>A NP_001990.2:p.Gly1252Ser
XM_017009228.2:c.3601G>A XP_016864717.1:p.Gly1201Ser
NM_001999.4:c.3754G>A MANE Select NP_001990.2:p.Gly1252Ser