Canonical Allele Identifier: CA3395904

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128408691T>C , CM000667.2:g.128408691T>C	GRCh38
NC_000005.9:g.127744384T>C , CM000667.1:g.127744384T>C	GRCh37
NC_000005.8:g.127772283T>C	NCBI36
NG_008750.1:g.134352A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.1061A>G MANE Select	NP_001990.2:p.Asp354Gly
ENST00000262464.9:c.1061A>G MANE Select	ENSP00000262464.4:p.Asp354Gly
NM_001999.3:c.1061A>G	NP_001990.2:p.Asp354Gly
ENST00000262464.8:c.1061A>G	ENSP00000262464.4:p.Asp354Gly
ENST00000508053.5:c.1061A>G	ENSP00000424571.1:p.Asp354Gly
ENST00000508053.6:c.1061A>G	ENSP00000424571.2:p.Asp354Gly
ENST00000508989.5:c.962A>G	ENSP00000425596.1:p.Asp321Gly
ENST00000619499.4:c.1058A>G	ENSP00000482132.1:p.Asp353Gly
ENST00000703787.1:n.768A>G
XM_017009228.2:c.1061A>G	XP_016864717.1:p.Asp354Gly