Canonical Allele Identifier: CA3395195

Gene: FBN2

Linked Data

• dbSNP Id: rs775157528
• ExAC: 5:127673697 T / A
• gnomAD v4: 5-128338005-T-A
• MyVariant Identifiers: chr5:g.127673697T>A (hg19) ; chr5:g.128338005T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338005T>A , CM000667.2:g.128338005T>A	GRCh38
NC_000005.9:g.127673697T>A , CM000667.1:g.127673697T>A	GRCh37
NC_000005.8:g.127701596T>A	NCBI36
NG_008750.1:g.205039A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.374A>T
ENST00000703785.1:n.455A>T
ENST00000262464.9:c.3590A>T MANE Select	ENSP00000262464.4:p.Asp1197Val
ENST00000262464.8:c.3590A>T	ENSP00000262464.4:p.Asp1197Val
ENST00000507835.5:c.140A>T	ENSP00000426839.1:p.Asp47Val
ENST00000508053.5:c.3590A>T	ENSP00000424571.1:p.Asp1197Val
ENST00000508989.5:c.3491A>T	ENSP00000425596.1:p.Asp1164Val
ENST00000619499.4:c.3587A>T	ENSP00000482132.1:p.Asp1196Val
NM_001999.3:c.3590A>T	NP_001990.2:p.Asp1197Val
XM_017009228.2:c.3437A>T	XP_016864717.1:p.Asp1146Val
NM_001999.4:c.3590A>T MANE Select	NP_001990.2:p.Asp1197Val