Canonical Allele Identifier: CA3395111

Gene: FBN2

Linked Data

• dbSNP Id: rs781013914
• ExAC: 5:127670985 T / C
• gnomAD v3: 5-128335293-T-C
• gnomAD v4: 5-128335293-T-C
• MyVariant Identifiers: chr5:g.127670985T>C (hg19) ; chr5:g.128335293T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335293T>C , CM000667.2:g.128335293T>C	GRCh38
NC_000005.9:g.127670985T>C , CM000667.1:g.127670985T>C	GRCh37
NC_000005.8:g.127698884T>C	NCBI36
NG_008750.1:g.207751A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.634A>G
ENST00000703785.1:n.715A>G
ENST00000262464.9:c.3850A>G MANE Select	ENSP00000262464.4:p.Ile1284Val
ENST00000262464.8:c.3850A>G	ENSP00000262464.4:p.Ile1284Val
ENST00000507835.5:c.400A>G	ENSP00000426839.1:p.Ile134Val
ENST00000508053.5:c.3850A>G	ENSP00000424571.1:p.Ile1284Val
ENST00000508989.5:c.3751A>G	ENSP00000425596.1:p.Ile1251Val
ENST00000619499.4:c.3847A>G	ENSP00000482132.1:p.Ile1283Val
NM_001999.3:c.3850A>G	NP_001990.2:p.Ile1284Val
XM_017009228.2:c.3697A>G	XP_016864717.1:p.Ile1233Val
NM_001999.4:c.3850A>G MANE Select	NP_001990.2:p.Ile1284Val