Canonical Allele Identifier: CA360755041

Gene: FBN2

Linked Data

• dbSNP Id: rs1750733422
• MyVariant Identifiers: chr5:g.127668667T>C (hg19) ; chr5:g.128332975T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332975T>C , CM000667.2:g.128332975T>C	GRCh38
NC_000005.9:g.127668667T>C , CM000667.1:g.127668667T>C	GRCh37
NC_000005.8:g.127696566T>C	NCBI36
NG_008750.1:g.210069A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.943A>G
ENST00000703785.1:n.1024A>G
ENST00000262464.9:c.4159A>G MANE Select	ENSP00000262464.4:p.Ile1387Val
ENST00000262464.8:c.4159A>G	ENSP00000262464.4:p.Ile1387Val
ENST00000507835.5:c.709A>G	ENSP00000426839.1:p.Ile237Val
ENST00000508053.5:c.4159A>G	ENSP00000424571.1:p.Ile1387Val
ENST00000508989.5:c.4060A>G	ENSP00000425596.1:p.Ile1354Val
ENST00000619499.4:c.4156A>G	ENSP00000482132.1:p.Ile1386Val
NM_001999.3:c.4159A>G	NP_001990.2:p.Ile1387Val
XM_017009228.2:c.4006A>G	XP_016864717.1:p.Ile1336Val
NM_001999.4:c.4159A>G MANE Select	NP_001990.2:p.Ile1387Val