Canonical Allele Identifier: CA360755296

Gene: FBN2

Linked Data

• dbSNP Id: rs1750734443
• gnomAD v3: 5-128333003-G-T
• gnomAD v4: 5-128333003-G-T
• MyVariant Identifiers: chr5:g.127668695G>T (hg19) ; chr5:g.128333003G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333003G>T , CM000667.2:g.128333003G>T	GRCh38
NC_000005.9:g.127668695G>T , CM000667.1:g.127668695G>T	GRCh37
NC_000005.8:g.127696594G>T	NCBI36
NG_008750.1:g.210041C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.915C>A
ENST00000703785.1:n.996C>A
ENST00000262464.9:c.4131C>A MANE Select	ENSP00000262464.4:p.Asn1377Lys
ENST00000262464.8:c.4131C>A	ENSP00000262464.4:p.Asn1377Lys
ENST00000507835.5:c.681C>A	ENSP00000426839.1:p.Asn227Lys
ENST00000508053.5:c.4131C>A	ENSP00000424571.1:p.Asn1377Lys
ENST00000508989.5:c.4032C>A	ENSP00000425596.1:p.Asn1344Lys
ENST00000619499.4:c.4128C>A	ENSP00000482132.1:p.Asn1376Lys
NM_001999.3:c.4131C>A	NP_001990.2:p.Asn1377Lys
XM_017009228.2:c.3978C>A	XP_016864717.1:p.Asn1326Lys
NM_001999.4:c.4131C>A MANE Select	NP_001990.2:p.Asn1377Lys