Canonical Allele Identifier: CA360755519

Gene: FBN2

Linked Data

• dbSNP Id: rs1223358745
• gnomAD v2: 5-127668725-A-T
• gnomAD v4: 5-128333033-A-T
• MyVariant Identifiers: chr5:g.127668725A>T (hg19) ; chr5:g.128333033A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333033A>T , CM000667.2:g.128333033A>T	GRCh38
NC_000005.9:g.127668725A>T , CM000667.1:g.127668725A>T	GRCh37
NC_000005.8:g.127696624A>T	NCBI36
NG_008750.1:g.210011T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.885T>A
ENST00000703785.1:n.966T>A
ENST00000262464.9:c.4101T>A MANE Select	ENSP00000262464.4:p.Asp1367Glu
ENST00000262464.8:c.4101T>A	ENSP00000262464.4:p.Asp1367Glu
ENST00000507835.5:c.651T>A	ENSP00000426839.1:p.Asp217Glu
ENST00000508053.5:c.4101T>A	ENSP00000424571.1:p.Asp1367Glu
ENST00000508989.5:c.4002T>A	ENSP00000425596.1:p.Asp1334Glu
ENST00000619499.4:c.4098T>A	ENSP00000482132.1:p.Asp1366Glu
NM_001999.3:c.4101T>A	NP_001990.2:p.Asp1367Glu
XM_017009228.2:c.3948T>A	XP_016864717.1:p.Asp1316Glu
NM_001999.4:c.4101T>A MANE Select	NP_001990.2:p.Asp1367Glu