Canonical Allele Identifier: CA290901
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 137354
ClinVar RCV Id: RCV000125085 RCV000232202 RCV000659632 RCV001532519 RCV003925236 RCV002277265 RCV002310703
dbSNP Id: rs28763920
ExAC: 5:127597488 G / A
gnomAD v2: 5-127597488-G-A
gnomAD v3: 5-128261796-G-A
gnomAD v4: 5-128261796-G-A
MyVariant Identifiers: chr5:g.127597488G>A (hg19) chr5:g.128261796G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261796G>A , CM000667.2:g.128261796G>A GRCh38
NC_000005.9:g.127597488G>A , CM000667.1:g.127597488G>A GRCh37
NC_000005.8:g.127625387G>A NCBI36
NG_008750.1:g.281248C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8304C>T MANE Select ENSP00000262464.4:p.Asn2768=
ENST00000262464.8:c.8304C>T ENSP00000262464.4:p.Asn2768=
ENST00000508053.5:c.8304C>T ENSP00000424571.1:p.Asn2768=
ENST00000619499.4:c.8301C>T ENSP00000482132.1:p.Asn2767=
NM_001999.3:c.8304C>T NP_001990.2:p.Asn2768=
XM_017009228.2:c.8151C>T XP_016864717.1:p.Asn2717=
NM_001999.4:c.8304C>T MANE Select NP_001990.2:p.Asn2768=
Search 100 bp 5'
Search 100 bp 3'