Canonical Allele Identifier: CA1581255391
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304986T= , CM000667.2:g.128304986T= GRCh38
NC_000005.9:g.127640678T= , CM000667.1:g.127640678T= GRCh37
NC_000005.8:g.127668577T= NCBI36
NG_008750.1:g.238058A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2555A=
ENST00000703785.1:n.2474A=
ENST00000262464.9:c.5771A= MANE Select ENSP00000262464.4:p.Lys1924=
ENST00000262464.8:c.5771A= ENSP00000262464.4:p.Lys1924=
ENST00000508053.5:c.5771A= ENSP00000424571.1:p.Lys1924=
ENST00000619499.4:c.5768A= ENSP00000482132.1:p.Lys1923=
NM_001999.3:c.5771A= NP_001990.2:p.Lys1924=
XM_017009228.2:c.5618A= XP_016864717.1:p.Lys1873=
NM_001999.4:c.5771A= MANE Select NP_001990.2:p.Lys1924=