Canonical Allele Identifier: CA2675114229
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128301314-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128301314A>G , CM000667.2:g.128301314A>G GRCh38
NC_000005.9:g.127637006A>G , CM000667.1:g.127637006A>G GRCh37
NC_000005.8:g.127664905A>G NCBI36
NG_008750.1:g.241730T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2830+68T>C
ENST00000703785.1:n.2749+68T>C
ENST00000262464.9:c.6046+68T>C MANE Select ENSP00000262464.4:n.6046+68T>C
ENST00000262464.8:c.6046+68T>C ENSP00000262464.4:n.6046+68T>C
ENST00000508053.5:c.6046+68T>C ENSP00000424571.1:n.6046+68T>C
ENST00000619499.4:c.6043+68T>C ENSP00000482132.1:n.6043+68T>C
NM_001999.3:c.6046+68T>C NP_001990.2:n.6046+68T>C
XM_017009228.2:c.5893+68T>C XP_016864717.1:n.5893+68T>C
NM_001999.4:c.6046+68T>C MANE Select NP_001990.2:n.6046+68T>C
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