Canonical Allele Identifier: CA360739877
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 519853
ClinVar RCV Id: RCV002313334
dbSNP Id: rs1160016215
gnomAD v2: 5-127640687-T-C
gnomAD v3: 5-128304995-T-C
gnomAD v4: 5-128304995-T-C
MyVariant Identifiers: chr5:g.127640687T>C (hg19) chr5:g.128304995T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304995T>C , CM000667.2:g.128304995T>C GRCh38
NC_000005.9:g.127640687T>C , CM000667.1:g.127640687T>C GRCh37
NC_000005.8:g.127668586T>C NCBI36
NG_008750.1:g.238049A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.2546A>G
ENST00000703785.1:n.2465A>G
ENST00000262464.9:c.5762A>G MANE Select ENSP00000262464.4:p.Asn1921Ser
ENST00000262464.8:c.5762A>G ENSP00000262464.4:p.Asn1921Ser
ENST00000508053.5:c.5762A>G ENSP00000424571.1:p.Asn1921Ser
ENST00000619499.4:c.5759A>G ENSP00000482132.1:p.Asn1920Ser
NM_001999.3:c.5762A>G NP_001990.2:p.Asn1921Ser
XM_017009228.2:c.5609A>G XP_016864717.1:p.Asn1870Ser
NM_001999.4:c.5762A>G MANE Select NP_001990.2:p.Asn1921Ser
Search 100 bp 5'
Search 100 bp 3'