Canonical Allele Identifier: CA322010

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128345429C>G , CM000667.2:g.128345429C>G	GRCh38
NC_000005.9:g.127681121C>G , CM000667.1:g.127681121C>G	GRCh37
NC_000005.8:g.127709020C>G	NCBI36
NG_008750.1:g.197615G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3145G>C MANE Select	NP_001990.2:p.Glu1049Gln
ENST00000262464.9:c.3145G>C MANE Select	ENSP00000262464.4:p.Glu1049Gln
NM_001999.3:c.3145G>C	NP_001990.2:p.Glu1049Gln
ENST00000262464.8:c.3145G>C	ENSP00000262464.4:p.Glu1049Gln
ENST00000508053.5:c.3145G>C	ENSP00000424571.1:p.Glu1049Gln
ENST00000508989.5:c.3046G>C	ENSP00000425596.1:p.Glu1016Gln
ENST00000619499.4:c.3142G>C	ENSP00000482132.1:p.Glu1048Gln
XM_017009228.2:c.2992G>C	XP_016864717.1:p.Glu998Gln