Canonical Allele Identifier: CA1581270782
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338154A= , CM000667.2:g.128338154A= GRCh38
NC_000005.9:g.127673846A= , CM000667.1:g.127673846A= GRCh37
NC_000005.8:g.127701745A= NCBI36
NG_008750.1:g.204890T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.257-32T=
ENST00000703785.1:n.338-32T=
ENST00000262464.9:c.3473-32T= MANE Select ENSP00000262464.4:n.3473-32T=
ENST00000262464.8:c.3473-32T= ENSP00000262464.4:n.3473-32T=
ENST00000507835.5:c.23-32T= ENSP00000426839.1:n.23-32T=
ENST00000508053.5:c.3473-32T= ENSP00000424571.1:n.3473-32T=
ENST00000508989.5:c.3374-32T= ENSP00000425596.1:n.3374-32T=
ENST00000619499.4:c.3470-32T= ENSP00000482132.1:n.3470-32T=
NM_001999.3:c.3473-32T= NP_001990.2:n.3473-32T=
XM_017009228.2:c.3320-32T= XP_016864717.1:n.3320-32T=
NM_001999.4:c.3473-32T= MANE Select NP_001990.2:n.3473-32T=