Canonical Allele Identifier: CA1581269469

Gene: FBN2

Linked Data

• dbSNP Id: rs1581223979

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335164A>C , CM000667.2:g.128335164A>C	GRCh38
NC_000005.9:g.127670856A>C , CM000667.1:g.127670856A>C	GRCh37
NC_000005.8:g.127698755A>C	NCBI36
NG_008750.1:g.207880T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.757+6T>G
ENST00000703785.1:n.838+6T>G
ENST00000262464.9:c.3973+6T>G MANE Select	ENSP00000262464.4:n.3973+6T>G
ENST00000262464.8:c.3973+6T>G	ENSP00000262464.4:n.3973+6T>G
ENST00000507835.5:c.523+6T>G	ENSP00000426839.1:n.523+6T>G
ENST00000508053.5:c.3973+6T>G	ENSP00000424571.1:n.3973+6T>G
ENST00000508989.5:c.3874+6T>G	ENSP00000425596.1:n.3874+6T>G
ENST00000619499.4:c.3970+6T>G	ENSP00000482132.1:n.3970+6T>G
NM_001999.3:c.3973+6T>G	NP_001990.2:n.3973+6T>G
XM_017009228.2:c.3820+6T>G	XP_016864717.1:n.3820+6T>G
NM_001999.4:c.3973+6T>G MANE Select	NP_001990.2:n.3973+6T>G