Canonical Allele Identifier: CA127033642
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 676363
ClinVar RCV Id: RCV000835797
dbSNP Id: rs73345284
gnomAD v2: 5-127728774-T-C
gnomAD v3: 5-128393081-T-C
gnomAD v4: 5-128393081-T-C
MyVariant Identifiers: chr5:g.127728774T>C (hg19) chr5:g.128393081T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128393081T>C , CM000667.2:g.128393081T>C GRCh38
NC_000005.9:g.127728774T>C , CM000667.1:g.127728774T>C GRCh37
NC_000005.8:g.127756673T>C NCBI36
NG_008750.1:g.149962A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000703787.1:n.1172+54A>G
ENST00000262464.9:c.1465+54A>G MANE Select ENSP00000262464.4:n.1465+54A>G
ENST00000262464.8:c.1465+54A>G ENSP00000262464.4:n.1465+54A>G
ENST00000508053.5:c.1465+54A>G ENSP00000424571.1:n.1465+54A>G
ENST00000508989.5:c.1366+54A>G ENSP00000425596.1:n.1366+54A>G
ENST00000619499.4:c.1462+54A>G ENSP00000482132.1:n.1462+54A>G
NM_001999.3:c.1465+54A>G NP_001990.2:n.1465+54A>G
XM_017009228.2:c.1312+54A>G XP_016864717.1:n.1312+54A>G
NM_001999.4:c.1465+54A>G MANE Select NP_001990.2:n.1465+54A>G
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