Canonical Allele Identifier: CA3395389

Gene: FBN2

Linked Data

• ClinVar Variation Id: 458749
• ClinVar RCV Id: RCV000545913 ; RCV002438317
• dbSNP Id: rs142249689
• ExAC: 5:127685085 C / A
• gnomAD v2: 5-127685085-C-A
• gnomAD v3: 5-128349393-C-A
• gnomAD v4: 5-128349393-C-A
• MyVariant Identifiers: chr5:g.127685085C>A (hg19) ; chr5:g.128349393C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128349393C>A , CM000667.2:g.128349393C>A	GRCh38
NC_000005.9:g.127685085C>A , CM000667.1:g.127685085C>A	GRCh37
NC_000005.8:g.127712984C>A	NCBI36
NG_008750.1:g.193651G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2943G>T MANE Select	ENSP00000262464.4:p.Glu981Asp
ENST00000262464.8:c.2943G>T	ENSP00000262464.4:p.Glu981Asp
ENST00000508053.5:c.2943G>T	ENSP00000424571.1:p.Glu981Asp
ENST00000508989.5:c.2844G>T	ENSP00000425596.1:p.Glu948Asp
ENST00000619499.4:c.2940G>T	ENSP00000482132.1:p.Glu980Asp
NM_001999.3:c.2943G>T	NP_001990.2:p.Glu981Asp
XM_017009228.2:c.2790G>T	XP_016864717.1:p.Glu930Asp
NM_001999.4:c.2943G>T MANE Select	NP_001990.2:p.Glu981Asp