Canonical Allele Identifier: CA2675120652
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128395004-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395004T>C , CM000667.2:g.128395004T>C GRCh38
NC_000005.9:g.127730697T>C , CM000667.1:g.127730697T>C GRCh37
NC_000005.8:g.127758596T>C NCBI36
NG_008750.1:g.148039A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.938+118A>G
ENST00000262464.9:c.1231+118A>G MANE Select ENSP00000262464.4:n.1231+118A>G
ENST00000262464.8:c.1231+118A>G ENSP00000262464.4:n.1231+118A>G
ENST00000508053.5:c.1231+118A>G ENSP00000424571.1:n.1231+118A>G
ENST00000508989.5:c.1132+118A>G ENSP00000425596.1:n.1132+118A>G
ENST00000619499.4:c.1228+118A>G ENSP00000482132.1:n.1228+118A>G
NM_001999.3:c.1231+118A>G NP_001990.2:n.1231+118A>G
XM_017009228.2:c.1079-1636A>G XP_016864717.1:n.1079-1636A>G
NM_001999.4:c.1231+118A>G MANE Select NP_001990.2:n.1231+118A>G
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