Canonical Allele Identifier: CA360754215

Gene: FBN2

Linked Data

• ClinVar Variation Id: 840657
• ClinVar RCV Id: RCV001042699
• dbSNP Id: rs1478574969
• gnomAD v2: 5-127666382-C-T
• gnomAD v4: 5-128330690-C-T
• MyVariant Identifiers: chr5:g.127666382C>T (hg19) ; chr5:g.128330690C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330690C>T , CM000667.2:g.128330690C>T	GRCh38
NC_000005.9:g.127666382C>T , CM000667.1:g.127666382C>T	GRCh37
NC_000005.8:g.127694281C>T	NCBI36
NG_008750.1:g.212354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1012G>A
ENST00000703785.1:n.1093G>A
ENST00000262464.9:c.4228G>A MANE Select	ENSP00000262464.4:p.Asp1410Asn
ENST00000262464.8:c.4228G>A	ENSP00000262464.4:p.Asp1410Asn
ENST00000507835.5:c.778G>A	ENSP00000426839.1:p.Asp260Asn
ENST00000508053.5:c.4228G>A	ENSP00000424571.1:p.Asp1410Asn
ENST00000508989.5:c.4129G>A	ENSP00000425596.1:p.Asp1377Asn
ENST00000619499.4:c.4225G>A	ENSP00000482132.1:p.Asp1409Asn
NM_001999.3:c.4228G>A	NP_001990.2:p.Asp1410Asn
XM_017009228.2:c.4075G>A	XP_016864717.1:p.Asp1359Asn
NM_001999.4:c.4228G>A MANE Select	NP_001990.2:p.Asp1410Asn