Canonical Allele Identifier: CA290863
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 137321
ClinVar RCV Id: RCV000125038 RCV000230269 RCV000659605 RCV001579403 RCV002277249 RCV002483246
dbSNP Id: rs28763949
ExAC: 5:127693094 T / C
gnomAD v2: 5-127693094-T-C
gnomAD v3: 5-128357402-T-C
gnomAD v4: 5-128357402-T-C
MyVariant Identifiers: chr5:g.127693094T>C (hg19) chr5:g.128357402T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357402T>C , CM000667.2:g.128357402T>C GRCh38
NC_000005.9:g.127693094T>C , CM000667.1:g.127693094T>C GRCh37
NC_000005.8:g.127720993T>C NCBI36
NG_008750.1:g.185642A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2555-7A>G MANE Select ENSP00000262464.4:n.2555-7A>G
ENST00000262464.8:c.2555-7A>G ENSP00000262464.4:n.2555-7A>G
ENST00000508053.5:c.2555-7A>G ENSP00000424571.1:n.2555-7A>G
ENST00000508989.5:c.2456-7A>G ENSP00000425596.1:n.2456-7A>G
ENST00000619499.4:c.2552-7A>G ENSP00000482132.1:n.2552-7A>G
NM_001999.3:c.2555-7A>G NP_001990.2:n.2555-7A>G
XM_017009228.2:c.2402-7A>G XP_016864717.1:n.2402-7A>G
NM_001999.4:c.2555-7A>G MANE Select NP_001990.2:n.2555-7A>G
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