Canonical Allele Identifier: CA322116
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213378
ClinVar RCV Id: RCV000197656 RCV001241938 RCV002372170
dbSNP Id: rs781069799
ExAC: 5:127595185 C / T
gnomAD v2: 5-127595185-C-T
gnomAD v3: 5-128259493-C-T
gnomAD v4: 5-128259493-C-T
MyVariant Identifiers: chr5:g.127595185C>T (hg19) chr5:g.128259493C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128259493C>T , CM000667.2:g.128259493C>T GRCh38
NC_000005.9:g.127595185C>T , CM000667.1:g.127595185C>T GRCh37
NC_000005.8:g.127623084C>T NCBI36
NG_008750.1:g.283551G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8701G>A MANE Select ENSP00000262464.4:p.Glu2901Lys
ENST00000262464.8:c.8701G>A ENSP00000262464.4:p.Glu2901Lys
ENST00000508053.5:c.8701G>A ENSP00000424571.1:p.Glu2901Lys
ENST00000619499.4:c.8698G>A ENSP00000482132.1:p.Glu2900Lys
NM_001999.3:c.8701G>A NP_001990.2:p.Glu2901Lys
XM_017009228.2:c.8548G>A XP_016864717.1:p.Glu2850Lys
NM_001999.4:c.8701G>A MANE Select NP_001990.2:p.Glu2901Lys
Search 100 bp 5'
Search 100 bp 3'