Canonical Allele Identifier: CA1581282158

Gene: FBN2

Linked Data

• dbSNP Id: rs1751519432

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357069T>C , CM000667.2:g.128357069T>C	GRCh38
NC_000005.9:g.127692761T>C , CM000667.1:g.127692761T>C	GRCh37
NC_000005.8:g.127720660T>C	NCBI36
NG_008750.1:g.185975A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+207A>G MANE Select	ENSP00000262464.4:n.2674+207A>G
ENST00000262464.8:c.2674+207A>G	ENSP00000262464.4:n.2674+207A>G
ENST00000508053.5:c.2674+207A>G	ENSP00000424571.1:n.2674+207A>G
ENST00000508989.5:c.2575+207A>G	ENSP00000425596.1:n.2575+207A>G
ENST00000619499.4:c.2671+207A>G	ENSP00000482132.1:n.2671+207A>G
NM_001999.3:c.2674+207A>G	NP_001990.2:n.2674+207A>G
XM_017009228.2:c.2521+207A>G	XP_016864717.1:n.2521+207A>G
NM_001999.4:c.2674+207A>G MANE Select	NP_001990.2:n.2674+207A>G