Canonical Allele Identifier: CA446309183

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2087696
• ClinVar RCV Id: RCV003009692
• MyVariant Identifiers: chr5:g.127666287A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330595A>G , CM000667.2:g.128330595A>G	GRCh38
NC_000005.9:g.127666287A>G , CM000667.1:g.127666287A>G	GRCh37
NC_000005.8:g.127694186A>G	NCBI36
NG_008750.1:g.212449T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1107T>C
ENST00000703785.1:n.1188T>C
ENST00000262464.9:c.4323T>C MANE Select	ENSP00000262464.4:p.Thr1441=
ENST00000262464.8:c.4323T>C	ENSP00000262464.4:p.Thr1441=
ENST00000507835.5:c.873T>C	ENSP00000426839.1:p.Thr291=
ENST00000508053.5:c.4323T>C	ENSP00000424571.1:p.Thr1441=
ENST00000508989.5:c.4224T>C	ENSP00000425596.1:p.Thr1408=
ENST00000619499.4:c.4320T>C	ENSP00000482132.1:p.Thr1440=
NM_001999.3:c.4323T>C	NP_001990.2:p.Thr1441=
XM_017009228.2:c.4170T>C	XP_016864717.1:p.Thr1390=
NM_001999.4:c.4323T>C MANE Select	NP_001990.2:p.Thr1441=