Canonical Allele Identifier: CA2675117524

Gene: FBN2

Linked Data

• gnomAD v4: 5-128337985-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128337985A>C , CM000667.2:g.128337985A>C	GRCh38
NC_000005.9:g.127673677A>C , CM000667.1:g.127673677A>C	GRCh37
NC_000005.8:g.127701576A>C	NCBI36
NG_008750.1:g.205059T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.382+12T>G
ENST00000703785.1:n.463+12T>G
ENST00000262464.9:c.3598+12T>G MANE Select	ENSP00000262464.4:n.3598+12T>G
ENST00000262464.8:c.3598+12T>G	ENSP00000262464.4:n.3598+12T>G
ENST00000507835.5:c.148+12T>G	ENSP00000426839.1:n.148+12T>G
ENST00000508053.5:c.3598+12T>G	ENSP00000424571.1:n.3598+12T>G
ENST00000508989.5:c.3499+12T>G	ENSP00000425596.1:n.3499+12T>G
ENST00000619499.4:c.3595+12T>G	ENSP00000482132.1:n.3595+12T>G
NM_001999.3:c.3598+12T>G	NP_001990.2:n.3598+12T>G
XM_017009228.2:c.3445+12T>G	XP_016864717.1:n.3445+12T>G
NM_001999.4:c.3598+12T>G MANE Select	NP_001990.2:n.3598+12T>G