Canonical Allele Identifier: CA360757904
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335460C>T , CM000667.2:g.128335460C>T GRCh38
NC_000005.9:g.127671152C>T , CM000667.1:g.127671152C>T GRCh37
NC_000005.8:g.127699051C>T NCBI36
NG_008750.1:g.207584G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.626G>A
ENST00000703785.1:n.707G>A
ENST00000262464.9:c.3842G>A MANE Select ENSP00000262464.4:p.Cys1281Tyr
ENST00000262464.8:c.3842G>A ENSP00000262464.4:p.Cys1281Tyr
ENST00000507835.5:c.392G>A ENSP00000426839.1:p.Cys131Tyr
ENST00000508053.5:c.3842G>A ENSP00000424571.1:p.Cys1281Tyr
ENST00000508989.5:c.3743G>A ENSP00000425596.1:p.Cys1248Tyr
ENST00000619499.4:c.3839G>A ENSP00000482132.1:p.Cys1280Tyr
NM_001999.3:c.3842G>A NP_001990.2:p.Cys1281Tyr
XM_017009228.2:c.3689G>A XP_016864717.1:p.Cys1230Tyr
NM_001999.4:c.3842G>A MANE Select NP_001990.2:p.Cys1281Tyr