Canonical Allele Identifier: CA1581293503
Gene: FBN2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128393095G= , CM000667.2:g.128393095G= GRCh38
NC_000005.9:g.127728788G= , CM000667.1:g.127728788G= GRCh37
NC_000005.8:g.127756687G= NCBI36
NG_008750.1:g.149948C=

Transcript Alleles

HGVS Amino-acid change
ENST00000703787.1:n.1172+40C=
ENST00000262464.9:c.1465+40C= MANE Select ENSP00000262464.4:n.1465+40C=
ENST00000262464.8:c.1465+40C= ENSP00000262464.4:n.1465+40C=
ENST00000508053.5:c.1465+40C= ENSP00000424571.1:n.1465+40C=
ENST00000508989.5:c.1366+40C= ENSP00000425596.1:n.1366+40C=
ENST00000619499.4:c.1462+40C= ENSP00000482132.1:n.1462+40C=
NM_001999.3:c.1465+40C= NP_001990.2:n.1465+40C=
XM_017009228.2:c.1312+40C= XP_016864717.1:n.1312+40C=
NM_001999.4:c.1465+40C= MANE Select NP_001990.2:n.1465+40C=
Search 100 bp 5'
Search 100 bp 3'