Canonical Allele Identifier: CA2675115689

Gene: FBN2

Linked Data

• gnomAD v4: 5-128312544-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128312544A>C , CM000667.2:g.128312544A>C	GRCh38
NC_000005.9:g.127648236A>C , CM000667.1:g.127648236A>C	GRCh37
NC_000005.8:g.127676135A>C	NCBI36
NG_008750.1:g.230500T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1663+90T>G
ENST00000703785.1:n.1583-591T>G
ENST00000262464.9:c.4879+90T>G MANE Select	ENSP00000262464.4:n.4879+90T>G
ENST00000262464.8:c.4879+90T>G	ENSP00000262464.4:n.4879+90T>G
ENST00000508053.5:c.4879+90T>G	ENSP00000424571.1:n.4879+90T>G
ENST00000619499.4:c.4876+90T>G	ENSP00000482132.1:n.4876+90T>G
NM_001999.3:c.4879+90T>G	NP_001990.2:n.4879+90T>G
XM_017009228.2:c.4726+90T>G	XP_016864717.1:n.4726+90T>G
NM_001999.4:c.4879+90T>G MANE Select	NP_001990.2:n.4879+90T>G