Canonical Allele Identifier: CA3395597

Gene: FBN2

Linked Data

• ClinVar Variation Id: 380412
• ClinVar RCV Id: RCV000438877 ; RCV000526169 ; RCV000765801 ; RCV002278670 ; RCV002446667
• dbSNP Id: rs147610681
• ExAC: 5:127702120 T / G
• gnomAD v2: 5-127702120-T-G
• gnomAD v3: 5-128366427-T-G
• gnomAD v4: 5-128366427-T-G
• MyVariant Identifiers: chr5:g.127702120T>G (hg19) ; chr5:g.128366427T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128366427T>G , CM000667.2:g.128366427T>G	GRCh38
NC_000005.9:g.127702120T>G , CM000667.1:g.127702120T>G	GRCh37
NC_000005.8:g.127730019T>G	NCBI36
NG_008750.1:g.176616A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2252A>C MANE Select	ENSP00000262464.4:p.Glu751Ala
ENST00000262464.8:c.2252A>C	ENSP00000262464.4:p.Glu751Ala
ENST00000508053.5:c.2252A>C	ENSP00000424571.1:p.Glu751Ala
ENST00000508989.5:c.2153A>C	ENSP00000425596.1:p.Glu718Ala
ENST00000511489.1:n.473A>C
ENST00000619499.4:c.2249A>C	ENSP00000482132.1:p.Glu750Ala
NM_001999.3:c.2252A>C	NP_001990.2:p.Glu751Ala
XM_017009228.2:c.2099A>C	XP_016864717.1:p.Glu700Ala
NM_001999.4:c.2252A>C MANE Select	NP_001990.2:p.Glu751Ala