Canonical Allele Identifier: CA446312369

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1132953
• ClinVar RCV Id: RCV001467372
• dbSNP Id: rs2126931519
• MyVariant Identifiers: chr5:g.127693086A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357394A>G , CM000667.2:g.128357394A>G	GRCh38
NC_000005.9:g.127693086A>G , CM000667.1:g.127693086A>G	GRCh37
NC_000005.8:g.127720985A>G	NCBI36
NG_008750.1:g.185650T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2556T>C MANE Select	ENSP00000262464.4:p.Asp852=
ENST00000262464.8:c.2556T>C	ENSP00000262464.4:p.Asp852=
ENST00000508053.5:c.2556T>C	ENSP00000424571.1:p.Asp852=
ENST00000508989.5:c.2457T>C	ENSP00000425596.1:p.Asp819=
ENST00000619499.4:c.2553T>C	ENSP00000482132.1:p.Asp851=
NM_001999.3:c.2556T>C	NP_001990.2:p.Asp852=
XM_017009228.2:c.2403T>C	XP_016864717.1:p.Asp801=
NM_001999.4:c.2556T>C MANE Select	NP_001990.2:p.Asp852=