Canonical Allele Identifier: CA1581270815
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338214G= , CM000667.2:g.128338214G= GRCh38
NC_000005.9:g.127673906G= , CM000667.1:g.127673906G= GRCh37
NC_000005.8:g.127701805G= NCBI36
NG_008750.1:g.204830C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.257-92C=
ENST00000703785.1:n.338-92C=
ENST00000262464.9:c.3473-92C= MANE Select ENSP00000262464.4:n.3473-92C=
ENST00000262464.8:c.3473-92C= ENSP00000262464.4:n.3473-92C=
ENST00000507835.5:c.23-92C= ENSP00000426839.1:n.23-92C=
ENST00000508053.5:c.3473-92C= ENSP00000424571.1:n.3473-92C=
ENST00000508989.5:c.3374-92C= ENSP00000425596.1:n.3374-92C=
ENST00000619499.4:c.3470-92C= ENSP00000482132.1:n.3470-92C=
NM_001999.3:c.3473-92C= NP_001990.2:n.3473-92C=
XM_017009228.2:c.3320-92C= XP_016864717.1:n.3320-92C=
NM_001999.4:c.3473-92C= MANE Select NP_001990.2:n.3473-92C=
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