Canonical Allele Identifier: CA3395051
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1525288
ClinVar RCV Id: RCV002324507 RCV002032343
dbSNP Id: rs28763942
ExAC: 5:127668723 A / G
gnomAD v2: 5-127668723-A-G
gnomAD v3: 5-128333031-A-G
gnomAD v4: 5-128333031-A-G
MyVariant Identifiers: chr5:g.127668723A>G (hg19) chr5:g.128333031A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128333031A>G , CM000667.2:g.128333031A>G GRCh38
NC_000005.9:g.127668723A>G , CM000667.1:g.127668723A>G GRCh37
NC_000005.8:g.127696622A>G NCBI36
NG_008750.1:g.210013T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.887T>C
ENST00000703785.1:n.968T>C
ENST00000262464.9:c.4103T>C MANE Select ENSP00000262464.4:p.Val1368Ala
ENST00000262464.8:c.4103T>C ENSP00000262464.4:p.Val1368Ala
ENST00000507835.5:c.653T>C ENSP00000426839.1:p.Val218Ala
ENST00000508053.5:c.4103T>C ENSP00000424571.1:p.Val1368Ala
ENST00000508989.5:c.4004T>C ENSP00000425596.1:p.Val1335Ala
ENST00000619499.4:c.4100T>C ENSP00000482132.1:p.Val1367Ala
NM_001999.3:c.4103T>C NP_001990.2:p.Val1368Ala
XM_017009228.2:c.3950T>C XP_016864717.1:p.Val1317Ala
NM_001999.4:c.4103T>C MANE Select NP_001990.2:p.Val1368Ala
Search 100 bp 5'
Search 100 bp 3'