Canonical Allele Identifier: CA446310535

Gene: FBN2

Linked Data

• dbSNP Id: rs1750891066
• gnomAD v4: 5-128337998-C-A
• MyVariant Identifiers: chr5:g.127673690C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128337998C>A , CM000667.2:g.128337998C>A	GRCh38
NC_000005.9:g.127673690C>A , CM000667.1:g.127673690C>A	GRCh37
NC_000005.8:g.127701589C>A	NCBI36
NG_008750.1:g.205046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.381G>T
ENST00000703785.1:n.462G>T
ENST00000262464.9:c.3597G>T MANE Select	ENSP00000262464.4:p.Val1199=
ENST00000262464.8:c.3597G>T	ENSP00000262464.4:p.Val1199=
ENST00000507835.5:c.147G>T	ENSP00000426839.1:p.Val49=
ENST00000508053.5:c.3597G>T	ENSP00000424571.1:p.Val1199=
ENST00000508989.5:c.3498G>T	ENSP00000425596.1:p.Val1166=
ENST00000619499.4:c.3594G>T	ENSP00000482132.1:p.Val1198=
NM_001999.3:c.3597G>T	NP_001990.2:p.Val1199=
XM_017009228.2:c.3444G>T	XP_016864717.1:p.Val1148=
NM_001999.4:c.3597G>T MANE Select	NP_001990.2:p.Val1199=