Canonical Allele Identifier: CA446310181

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671262A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335570A>G , CM000667.2:g.128335570A>G	GRCh38
NC_000005.9:g.127671262A>G , CM000667.1:g.127671262A>G	GRCh37
NC_000005.8:g.127699161A>G	NCBI36
NG_008750.1:g.207474T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.516T>C
ENST00000703785.1:n.597T>C
ENST00000262464.9:c.3732T>C MANE Select	ENSP00000262464.4:p.Asp1244=
ENST00000262464.8:c.3732T>C	ENSP00000262464.4:p.Asp1244=
ENST00000507835.5:c.282T>C	ENSP00000426839.1:p.Asp94=
ENST00000508053.5:c.3732T>C	ENSP00000424571.1:p.Asp1244=
ENST00000508989.5:c.3633T>C	ENSP00000425596.1:p.Asp1211=
ENST00000619499.4:c.3729T>C	ENSP00000482132.1:p.Asp1243=
NM_001999.3:c.3732T>C	NP_001990.2:p.Asp1244=
XM_017009228.2:c.3579T>C	XP_016864717.1:p.Asp1193=
NM_001999.4:c.3732T>C MANE Select	NP_001990.2:p.Asp1244=