Canonical Allele Identifier: CA360747854
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261856A>T , CM000667.2:g.128261856A>T GRCh38
NC_000005.9:g.127597548A>T , CM000667.1:g.127597548A>T GRCh37
NC_000005.8:g.127625447A>T NCBI36
NG_008750.1:g.281188T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8244T>A MANE Select ENSP00000262464.4:p.Asp2748Glu
ENST00000262464.8:c.8244T>A ENSP00000262464.4:p.Asp2748Glu
ENST00000508053.5:c.8244T>A ENSP00000424571.1:p.Asp2748Glu
ENST00000619499.4:c.8241T>A ENSP00000482132.1:p.Asp2747Glu
NM_001999.3:c.8244T>A NP_001990.2:p.Asp2748Glu
XM_017009228.2:c.8091T>A XP_016864717.1:p.Asp2697Glu
NM_001999.4:c.8244T>A MANE Select NP_001990.2:p.Asp2748Glu