Canonical Allele Identifier: CA1581270835
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338249A= , CM000667.2:g.128338249A= GRCh38
NC_000005.9:g.127673941A= , CM000667.1:g.127673941A= GRCh37
NC_000005.8:g.127701840A= NCBI36
NG_008750.1:g.204795T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.257-127T=
ENST00000703785.1:n.338-127T=
ENST00000262464.9:c.3473-127T= MANE Select ENSP00000262464.4:n.3473-127T=
ENST00000262464.8:c.3473-127T= ENSP00000262464.4:n.3473-127T=
ENST00000507835.5:c.23-127T= ENSP00000426839.1:n.23-127T=
ENST00000508053.5:c.3473-127T= ENSP00000424571.1:n.3473-127T=
ENST00000508989.5:c.3374-127T= ENSP00000425596.1:n.3374-127T=
ENST00000619499.4:c.3470-127T= ENSP00000482132.1:n.3470-127T=
NM_001999.3:c.3473-127T= NP_001990.2:n.3473-127T=
XM_017009228.2:c.3320-127T= XP_016864717.1:n.3320-127T=
NM_001999.4:c.3473-127T= MANE Select NP_001990.2:n.3473-127T=
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