Canonical Allele Identifier: CA288845

Gene: FBN2

Linked Data

• ClinVar Variation Id: 129054
• ClinVar RCV Id: RCV001811959 ; RCV002277175 ; RCV002310673
• dbSNP Id: rs76756898
• ExAC: 5:127597445 C / G
• gnomAD v2: 5-127597445-C-G
• gnomAD v3: 5-128261753-C-G
• gnomAD v4: 5-128261753-C-G
• MyVariant Identifiers: chr5:g.127597445C>G (hg19) ; chr5:g.128261753C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261753C>G , CM000667.2:g.128261753C>G	GRCh38
NC_000005.9:g.127597445C>G , CM000667.1:g.127597445C>G	GRCh37
NC_000005.8:g.127625344C>G	NCBI36
NG_008750.1:g.281291G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.8347G>C MANE Select	ENSP00000262464.4:p.Glu2783Gln
ENST00000262464.8:c.8347G>C	ENSP00000262464.4:p.Glu2783Gln
ENST00000508053.5:c.8347G>C	ENSP00000424571.1:p.Glu2783Gln
ENST00000619499.4:c.8344G>C	ENSP00000482132.1:p.Glu2782Gln
NM_001999.3:c.8347G>C	NP_001990.2:p.Glu2783Gln
XM_017009228.2:c.8194G>C	XP_016864717.1:p.Glu2732Gln
NM_001999.4:c.8347G>C MANE Select	NP_001990.2:p.Glu2783Gln