Canonical Allele Identifier: CA1581255422
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305059G= , CM000667.2:g.128305059G= GRCh38
NC_000005.9:g.127640751G= , CM000667.1:g.127640751G= GRCh37
NC_000005.8:g.127668650G= NCBI36
NG_008750.1:g.237985C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2482C=
ENST00000703785.1:n.2401C=
ENST00000262464.9:c.5698C= MANE Select ENSP00000262464.4:p.Pro1900=
ENST00000262464.8:c.5698C= ENSP00000262464.4:p.Pro1900=
ENST00000508053.5:c.5698C= ENSP00000424571.1:p.Pro1900=
ENST00000619499.4:c.5695C= ENSP00000482132.1:p.Pro1899=
NM_001999.3:c.5698C= NP_001990.2:p.Pro1900=
XM_017009228.2:c.5545C= XP_016864717.1:p.Pro1849=
NM_001999.4:c.5698C= MANE Select NP_001990.2:p.Pro1900=