Canonical Allele Identifier: CA360739914
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305002A>T , CM000667.2:g.128305002A>T GRCh38
NC_000005.9:g.127640694A>T , CM000667.1:g.127640694A>T GRCh37
NC_000005.8:g.127668593A>T NCBI36
NG_008750.1:g.238042T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2539T>A
ENST00000703785.1:n.2458T>A
ENST00000262464.9:c.5755T>A MANE Select ENSP00000262464.4:p.Cys1919Ser
ENST00000262464.8:c.5755T>A ENSP00000262464.4:p.Cys1919Ser
ENST00000508053.5:c.5755T>A ENSP00000424571.1:p.Cys1919Ser
ENST00000619499.4:c.5752T>A ENSP00000482132.1:p.Cys1918Ser
NM_001999.3:c.5755T>A NP_001990.2:p.Cys1919Ser
XM_017009228.2:c.5602T>A XP_016864717.1:p.Cys1868Ser
NM_001999.4:c.5755T>A MANE Select NP_001990.2:p.Cys1919Ser