Canonical Allele Identifier: CA1581261166
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128317416A= , CM000667.2:g.128317416A= GRCh38
NC_000005.9:g.127653108A= , CM000667.1:g.127653108A= GRCh37
NC_000005.8:g.127681007A= NCBI36
NG_008750.1:g.225628T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1501+733T=
ENST00000703785.1:n.1582+733T=
ENST00000262464.9:c.4717+733T= MANE Select ENSP00000262464.4:n.4717+733T=
ENST00000262464.8:c.4717+733T= ENSP00000262464.4:n.4717+733T=
ENST00000508053.5:c.4717+733T= ENSP00000424571.1:n.4717+733T=
ENST00000619499.4:c.4714+733T= ENSP00000482132.1:n.4714+733T=
NM_001999.3:c.4717+733T= NP_001990.2:n.4717+733T=
XM_017009228.2:c.4564+733T= XP_016864717.1:n.4564+733T=
NM_001999.4:c.4717+733T= MANE Select NP_001990.2:n.4717+733T=
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