Canonical Allele Identifier: CA3393869
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1044072
ClinVar RCV Id: RCV001348270
dbSNP Id: rs775766250
ExAC: 5:127597551 C / T
gnomAD v2: 5-127597551-C-T
gnomAD v4: 5-128261859-C-T
MyVariant Identifiers: chr5:g.127597551C>T (hg19) chr5:g.128261859C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261859C>T , CM000667.2:g.128261859C>T GRCh38
NC_000005.9:g.127597551C>T , CM000667.1:g.127597551C>T GRCh37
NC_000005.8:g.127625450C>T NCBI36
NG_008750.1:g.281185G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.8241G>A MANE Select ENSP00000262464.4:p.Leu2747=
ENST00000262464.8:c.8241G>A ENSP00000262464.4:p.Leu2747=
ENST00000508053.5:c.8241G>A ENSP00000424571.1:p.Leu2747=
ENST00000619499.4:c.8238G>A ENSP00000482132.1:p.Leu2746=
NM_001999.3:c.8241G>A NP_001990.2:p.Leu2747=
XM_017009228.2:c.8088G>A XP_016864717.1:p.Leu2696=
NM_001999.4:c.8241G>A MANE Select NP_001990.2:p.Leu2747=
Search 100 bp 5'
Search 100 bp 3'