Canonical Allele Identifier: CA446312342

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693043T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357351T>G , CM000667.2:g.128357351T>G	GRCh38
NC_000005.9:g.127693043T>G , CM000667.1:g.127693043T>G	GRCh37
NC_000005.8:g.127720942T>G	NCBI36
NG_008750.1:g.185693A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2599A>C MANE Select	ENSP00000262464.4:p.Arg867=
ENST00000262464.8:c.2599A>C	ENSP00000262464.4:p.Arg867=
ENST00000508053.5:c.2599A>C	ENSP00000424571.1:p.Arg867=
ENST00000508989.5:c.2500A>C	ENSP00000425596.1:p.Arg834=
ENST00000619499.4:c.2596A>C	ENSP00000482132.1:p.Arg866=
NM_001999.3:c.2599A>C	NP_001990.2:p.Arg867=
XM_017009228.2:c.2446A>C	XP_016864717.1:p.Arg816=
NM_001999.4:c.2599A>C MANE Select	NP_001990.2:p.Arg867=