Canonical Allele Identifier: CA1081360224

Gene: FBN2

Linked Data

• dbSNP Id: rs1750890916
• gnomAD v3: 5-128337986-G-C
• gnomAD v4: 5-128337986-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128337986G>C , CM000667.2:g.128337986G>C	GRCh38
NC_000005.9:g.127673678G>C , CM000667.1:g.127673678G>C	GRCh37
NC_000005.8:g.127701577G>C	NCBI36
NG_008750.1:g.205058C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.382+11C>G
ENST00000703785.1:n.463+11C>G
ENST00000262464.9:c.3598+11C>G MANE Select	ENSP00000262464.4:n.3598+11C>G
ENST00000262464.8:c.3598+11C>G	ENSP00000262464.4:n.3598+11C>G
ENST00000507835.5:c.148+11C>G	ENSP00000426839.1:n.148+11C>G
ENST00000508053.5:c.3598+11C>G	ENSP00000424571.1:n.3598+11C>G
ENST00000508989.5:c.3499+11C>G	ENSP00000425596.1:n.3499+11C>G
ENST00000619499.4:c.3595+11C>G	ENSP00000482132.1:n.3595+11C>G
NM_001999.3:c.3598+11C>G	NP_001990.2:n.3598+11C>G
XM_017009228.2:c.3445+11C>G	XP_016864717.1:n.3445+11C>G
NM_001999.4:c.3598+11C>G MANE Select	NP_001990.2:n.3598+11C>G