Canonical Allele Identifier: CA446310684

Gene: FBN2

Linked Data

• ClinVar Variation Id: 907059
• ClinVar RCV Id: RCV001156620
• dbSNP Id: rs1750894040
• MyVariant Identifiers: chr5:g.127673780A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338088A>G , CM000667.2:g.128338088A>G	GRCh38
NC_000005.9:g.127673780A>G , CM000667.1:g.127673780A>G	GRCh37
NC_000005.8:g.127701679A>G	NCBI36
NG_008750.1:g.204956T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.291T>C
ENST00000703785.1:n.372T>C
ENST00000262464.9:c.3507T>C MANE Select	ENSP00000262464.4:p.Cys1169=
ENST00000262464.8:c.3507T>C	ENSP00000262464.4:p.Cys1169=
ENST00000507835.5:c.57T>C	ENSP00000426839.1:p.Cys19=
ENST00000508053.5:c.3507T>C	ENSP00000424571.1:p.Cys1169=
ENST00000508989.5:c.3408T>C	ENSP00000425596.1:p.Cys1136=
ENST00000619499.4:c.3504T>C	ENSP00000482132.1:p.Cys1168=
NM_001999.3:c.3507T>C	NP_001990.2:p.Cys1169=
XM_017009228.2:c.3354T>C	XP_016864717.1:p.Cys1118=
NM_001999.4:c.3507T>C MANE Select	NP_001990.2:p.Cys1169=