Canonical Allele Identifier: CA320255
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213417
ClinVar RCV Id: RCV000195870 RCV001493386
dbSNP Id: rs772994944
ExAC: 5:127636602 C / T
gnomAD v2: 5-127636602-C-T
gnomAD v3: 5-128300910-C-T
gnomAD v4: 5-128300910-C-T
MyVariant Identifiers: chr5:g.127636602C>T (hg19) chr5:g.128300910C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300910C>T , CM000667.2:g.128300910C>T GRCh38
NC_000005.9:g.127636602C>T , CM000667.1:g.127636602C>T GRCh37
NC_000005.8:g.127664501C>T NCBI36
NG_008750.1:g.242134G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.2857G>A
ENST00000703785.1:n.2776G>A
ENST00000262464.9:c.6073G>A MANE Select ENSP00000262464.4:p.Gly2025Ser
ENST00000262464.8:c.6073G>A ENSP00000262464.4:p.Gly2025Ser
ENST00000508053.5:c.6073G>A ENSP00000424571.1:p.Gly2025Ser
ENST00000619499.4:c.6070G>A ENSP00000482132.1:p.Gly2024Ser
NM_001999.3:c.6073G>A NP_001990.2:p.Gly2025Ser
XM_017009228.2:c.5920G>A XP_016864717.1:p.Gly1974Ser
NM_001999.4:c.6073G>A MANE Select NP_001990.2:p.Gly2025Ser
Search 100 bp 5'
Search 100 bp 3'