Canonical Allele Identifier: CA3395097
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 263631
ClinVar RCV Id: RCV000244735
dbSNP Id: rs759481427
ExAC: 5:127670877 T / C
gnomAD v2: 5-127670877-T-C
gnomAD v3: 5-128335185-T-C
gnomAD v4: 5-128335185-T-C
MyVariant Identifiers: chr5:g.127670877T>C (hg19) chr5:g.128335185T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335185T>C , CM000667.2:g.128335185T>C GRCh38
NC_000005.9:g.127670877T>C , CM000667.1:g.127670877T>C GRCh37
NC_000005.8:g.127698776T>C NCBI36
NG_008750.1:g.207859A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.742A>G
ENST00000703785.1:n.823A>G
ENST00000262464.9:c.3958A>G MANE Select ENSP00000262464.4:p.Met1320Val
ENST00000262464.8:c.3958A>G ENSP00000262464.4:p.Met1320Val
ENST00000507835.5:c.508A>G ENSP00000426839.1:p.Met170Val
ENST00000508053.5:c.3958A>G ENSP00000424571.1:p.Met1320Val
ENST00000508989.5:c.3859A>G ENSP00000425596.1:p.Met1287Val
ENST00000619499.4:c.3955A>G ENSP00000482132.1:p.Met1319Val
NM_001999.3:c.3958A>G NP_001990.2:p.Met1320Val
XM_017009228.2:c.3805A>G XP_016864717.1:p.Met1269Val
NM_001999.4:c.3958A>G MANE Select NP_001990.2:p.Met1320Val
Search 100 bp 5'
Search 100 bp 3'