Canonical Allele Identifier: CA360767520
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357383C>T , CM000667.2:g.128357383C>T GRCh38
NC_000005.9:g.127693075C>T , CM000667.1:g.127693075C>T GRCh37
NC_000005.8:g.127720974C>T NCBI36
NG_008750.1:g.185661G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2567G>A MANE Select ENSP00000262464.4:p.Cys856Tyr
ENST00000262464.8:c.2567G>A ENSP00000262464.4:p.Cys856Tyr
ENST00000508053.5:c.2567G>A ENSP00000424571.1:p.Cys856Tyr
ENST00000508989.5:c.2468G>A ENSP00000425596.1:p.Cys823Tyr
ENST00000619499.4:c.2564G>A ENSP00000482132.1:p.Cys855Tyr
NM_001999.3:c.2567G>A NP_001990.2:p.Cys856Tyr
XM_017009228.2:c.2414G>A XP_016864717.1:p.Cys805Tyr
NM_001999.4:c.2567G>A MANE Select NP_001990.2:p.Cys856Tyr