Canonical Allele Identifier: CA360757435

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335237-A-C
• MyVariant Identifiers: chr5:g.127670929A>C (hg19) ; chr5:g.128335237A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335237A>C , CM000667.2:g.128335237A>C	GRCh38
NC_000005.9:g.127670929A>C , CM000667.1:g.127670929A>C	GRCh37
NC_000005.8:g.127698828A>C	NCBI36
NG_008750.1:g.207807T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.690T>G
ENST00000703785.1:n.771T>G
ENST00000262464.9:c.3906T>G MANE Select	ENSP00000262464.4:p.Ile1302Met
ENST00000262464.8:c.3906T>G	ENSP00000262464.4:p.Ile1302Met
ENST00000507835.5:c.456T>G	ENSP00000426839.1:p.Ile152Met
ENST00000508053.5:c.3906T>G	ENSP00000424571.1:p.Ile1302Met
ENST00000508989.5:c.3807T>G	ENSP00000425596.1:p.Ile1269Met
ENST00000619499.4:c.3903T>G	ENSP00000482132.1:p.Ile1301Met
NM_001999.3:c.3906T>G	NP_001990.2:p.Ile1302Met
XM_017009228.2:c.3753T>G	XP_016864717.1:p.Ile1251Met
NM_001999.4:c.3906T>G MANE Select	NP_001990.2:p.Ile1302Met