Canonical Allele Identifier: CA3395726

Gene: FBN2

Linked Data

• ClinVar Variation Id: 458736
• ClinVar RCV Id: RCV000531266 ; RCV001575606 ; RCV002279337 ; RCV003488662
• dbSNP Id: rs371046485
• ExAC: 5:127713560 C / G
• gnomAD v2: 5-127713560-C-G
• gnomAD v3: 5-128377867-C-G
• gnomAD v4: 5-128377867-C-G
• MyVariant Identifiers: chr5:g.127713560C>G (hg19) ; chr5:g.128377867C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128377867C>G , CM000667.2:g.128377867C>G	GRCh38
NC_000005.9:g.127713560C>G , CM000667.1:g.127713560C>G	GRCh37
NC_000005.8:g.127741459C>G	NCBI36
NG_008750.1:g.165176G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.1734G>C MANE Select	ENSP00000262464.4:p.Glu578Asp
ENST00000262464.8:c.1734G>C	ENSP00000262464.4:p.Glu578Asp
ENST00000508053.5:c.1734G>C	ENSP00000424571.1:p.Glu578Asp
ENST00000508989.5:c.1635G>C	ENSP00000425596.1:p.Glu545Asp
ENST00000619499.4:c.1731G>C	ENSP00000482132.1:p.Glu577Asp
NM_001999.3:c.1734G>C	NP_001990.2:p.Glu578Asp
XM_017009228.2:c.1581G>C	XP_016864717.1:p.Glu527Asp
NM_001999.4:c.1734G>C MANE Select	NP_001990.2:p.Glu578Asp