Canonical Allele Identifier: CA2675117193

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335720-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335720T>G , CM000667.2:g.128335720T>G	GRCh38
NC_000005.9:g.127671412T>G , CM000667.1:g.127671412T>G	GRCh37
NC_000005.8:g.127699311T>G	NCBI36
NG_008750.1:g.207324A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.509-143A>C
ENST00000703785.1:n.590-143A>C
ENST00000262464.9:c.3725-143A>C MANE Select	ENSP00000262464.4:n.3725-143A>C
ENST00000262464.8:c.3725-143A>C	ENSP00000262464.4:n.3725-143A>C
ENST00000507835.5:c.275-143A>C	ENSP00000426839.1:n.275-143A>C
ENST00000508053.5:c.3725-143A>C	ENSP00000424571.1:n.3725-143A>C
ENST00000508989.5:c.3626-143A>C	ENSP00000425596.1:n.3626-143A>C
ENST00000619499.4:c.3722-143A>C	ENSP00000482132.1:n.3722-143A>C
NM_001999.3:c.3725-143A>C	NP_001990.2:n.3725-143A>C
XM_017009228.2:c.3572-143A>C	XP_016864717.1:n.3572-143A>C
NM_001999.4:c.3725-143A>C MANE Select	NP_001990.2:n.3725-143A>C