Canonical Allele Identifier: CA1581269799

Gene: FBN2

Linked Data

• dbSNP Id: rs1750825385

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335950A>C , CM000667.2:g.128335950A>C	GRCh38
NC_000005.9:g.127671642A>C , CM000667.1:g.127671642A>C	GRCh37
NC_000005.8:g.127699541A>C	NCBI36
NG_008750.1:g.207094T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.508+38T>G
ENST00000703785.1:n.589+38T>G
ENST00000262464.9:c.3724+38T>G MANE Select	ENSP00000262464.4:n.3724+38T>G
ENST00000262464.8:c.3724+38T>G	ENSP00000262464.4:n.3724+38T>G
ENST00000507835.5:c.274+38T>G	ENSP00000426839.1:n.274+38T>G
ENST00000508053.5:c.3724+38T>G	ENSP00000424571.1:n.3724+38T>G
ENST00000508989.5:c.3625+38T>G	ENSP00000425596.1:n.3625+38T>G
ENST00000619499.4:c.3721+38T>G	ENSP00000482132.1:n.3721+38T>G
NM_001999.3:c.3724+38T>G	NP_001990.2:n.3724+38T>G
XM_017009228.2:c.3571+38T>G	XP_016864717.1:n.3571+38T>G
NM_001999.4:c.3724+38T>G MANE Select	NP_001990.2:n.3724+38T>G