Canonical Allele Identifier: CA1581269629
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335551C= , CM000667.2:g.128335551C= GRCh38
NC_000005.9:g.127671243C= , CM000667.1:g.127671243C= GRCh37
NC_000005.8:g.127699142C= NCBI36
NG_008750.1:g.207493G=

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.535G=
ENST00000703785.1:n.616G=
ENST00000262464.9:c.3751G= MANE Select ENSP00000262464.4:p.Gly1251=
ENST00000262464.8:c.3751G= ENSP00000262464.4:p.Gly1251=
ENST00000507835.5:c.301G= ENSP00000426839.1:p.Gly101=
ENST00000508053.5:c.3751G= ENSP00000424571.1:p.Gly1251=
ENST00000508989.5:c.3652G= ENSP00000425596.1:p.Gly1218=
ENST00000619499.4:c.3748G= ENSP00000482132.1:p.Gly1250=
NM_001999.3:c.3751G= NP_001990.2:p.Gly1251=
XM_017009228.2:c.3598G= XP_016864717.1:p.Gly1200=
NM_001999.4:c.3751G= MANE Select NP_001990.2:p.Gly1251=