Canonical Allele Identifier: CA1581282146
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357051A= , CM000667.2:g.128357051A= GRCh38
NC_000005.9:g.127692743A= , CM000667.1:g.127692743A= GRCh37
NC_000005.8:g.127720642A= NCBI36
NG_008750.1:g.185993T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2674+225T= MANE Select ENSP00000262464.4:n.2674+225T=
ENST00000262464.8:c.2674+225T= ENSP00000262464.4:n.2674+225T=
ENST00000508053.5:c.2674+225T= ENSP00000424571.1:n.2674+225T=
ENST00000508989.5:c.2575+225T= ENSP00000425596.1:n.2575+225T=
ENST00000619499.4:c.2671+225T= ENSP00000482132.1:n.2671+225T=
NM_001999.3:c.2674+225T= NP_001990.2:n.2674+225T=
XM_017009228.2:c.2521+225T= XP_016864717.1:n.2521+225T=
NM_001999.4:c.2674+225T= MANE Select NP_001990.2:n.2674+225T=
Search 100 bp 5'
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