Canonical Allele Identifier: CA446309277

Gene: FBN2

Linked Data

• dbSNP Id: rs1750670032
• MyVariant Identifiers: chr5:g.127666371A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330679A>G , CM000667.2:g.128330679A>G	GRCh38
NC_000005.9:g.127666371A>G , CM000667.1:g.127666371A>G	GRCh37
NC_000005.8:g.127694270A>G	NCBI36
NG_008750.1:g.212365T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1023T>C
ENST00000703785.1:n.1104T>C
ENST00000262464.9:c.4239T>C MANE Select	ENSP00000262464.4:p.Ser1413=
ENST00000262464.8:c.4239T>C	ENSP00000262464.4:p.Ser1413=
ENST00000507835.5:c.789T>C	ENSP00000426839.1:p.Ser263=
ENST00000508053.5:c.4239T>C	ENSP00000424571.1:p.Ser1413=
ENST00000508989.5:c.4140T>C	ENSP00000425596.1:p.Ser1380=
ENST00000619499.4:c.4236T>C	ENSP00000482132.1:p.Ser1412=
NM_001999.3:c.4239T>C	NP_001990.2:p.Ser1413=
XM_017009228.2:c.4086T>C	XP_016864717.1:p.Ser1362=
NM_001999.4:c.4239T>C MANE Select	NP_001990.2:p.Ser1413=