Canonical Allele Identifier: CA446310115

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671148T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335456T>G , CM000667.2:g.128335456T>G	GRCh38
NC_000005.9:g.127671148T>G , CM000667.1:g.127671148T>G	GRCh37
NC_000005.8:g.127699047T>G	NCBI36
NG_008750.1:g.207588A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.630A>C
ENST00000703785.1:n.711A>C
ENST00000262464.9:c.3846A>C MANE Select	ENSP00000262464.4:p.Ala1282=
ENST00000262464.8:c.3846A>C	ENSP00000262464.4:p.Ala1282=
ENST00000507835.5:c.396A>C	ENSP00000426839.1:p.Ala132=
ENST00000508053.5:c.3846A>C	ENSP00000424571.1:p.Ala1282=
ENST00000508989.5:c.3747A>C	ENSP00000425596.1:p.Ala1249=
ENST00000619499.4:c.3843A>C	ENSP00000482132.1:p.Ala1281=
NM_001999.3:c.3846A>C	NP_001990.2:p.Ala1282=
XM_017009228.2:c.3693A>C	XP_016864717.1:p.Ala1231=
NM_001999.4:c.3846A>C MANE Select	NP_001990.2:p.Ala1282=