Canonical Allele Identifier: CA360757907
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335461A>G , CM000667.2:g.128335461A>G GRCh38
NC_000005.9:g.127671153A>G , CM000667.1:g.127671153A>G GRCh37
NC_000005.8:g.127699052A>G NCBI36
NG_008750.1:g.207583T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.625T>C
ENST00000703785.1:n.706T>C
ENST00000262464.9:c.3841T>C MANE Select ENSP00000262464.4:p.Cys1281Arg
ENST00000262464.8:c.3841T>C ENSP00000262464.4:p.Cys1281Arg
ENST00000507835.5:c.391T>C ENSP00000426839.1:p.Cys131Arg
ENST00000508053.5:c.3841T>C ENSP00000424571.1:p.Cys1281Arg
ENST00000508989.5:c.3742T>C ENSP00000425596.1:p.Cys1248Arg
ENST00000619499.4:c.3838T>C ENSP00000482132.1:p.Cys1280Arg
NM_001999.3:c.3841T>C NP_001990.2:p.Cys1281Arg
XM_017009228.2:c.3688T>C XP_016864717.1:p.Cys1230Arg
NM_001999.4:c.3841T>C MANE Select NP_001990.2:p.Cys1281Arg