Canonical Allele Identifier: CA446309196
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127636519C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300827C>T , CM000667.2:g.128300827C>T GRCh38
NC_000005.9:g.127636519C>T , CM000667.1:g.127636519C>T GRCh37
NC_000005.8:g.127664418C>T NCBI36
NG_008750.1:g.242217G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2940G>A
ENST00000703785.1:n.2859G>A
ENST00000262464.9:c.6156G>A MANE Select ENSP00000262464.4:p.Glu2052=
ENST00000262464.8:c.6156G>A ENSP00000262464.4:p.Glu2052=
ENST00000508053.5:c.6156G>A ENSP00000424571.1:p.Glu2052=
ENST00000619499.4:c.6153G>A ENSP00000482132.1:p.Glu2051=
NM_001999.3:c.6156G>A NP_001990.2:p.Glu2052=
XM_017009228.2:c.6003G>A XP_016864717.1:p.Glu2001=
NM_001999.4:c.6156G>A MANE Select NP_001990.2:p.Glu2052=