Canonical Allele Identifier: CA1581253656
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128301285G= , CM000667.2:g.128301285G= GRCh38
NC_000005.9:g.127636977G= , CM000667.1:g.127636977G= GRCh37
NC_000005.8:g.127664876G= NCBI36
NG_008750.1:g.241759C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2830+97C=
ENST00000703785.1:n.2749+97C=
ENST00000262464.9:c.6046+97C= MANE Select ENSP00000262464.4:n.6046+97C=
ENST00000262464.8:c.6046+97C= ENSP00000262464.4:n.6046+97C=
ENST00000508053.5:c.6046+97C= ENSP00000424571.1:n.6046+97C=
ENST00000619499.4:c.6043+97C= ENSP00000482132.1:n.6043+97C=
NM_001999.3:c.6046+97C= NP_001990.2:n.6046+97C=
XM_017009228.2:c.5893+97C= XP_016864717.1:n.5893+97C=
NM_001999.4:c.6046+97C= MANE Select NP_001990.2:n.6046+97C=
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