Canonical Allele Identifier: CA324578

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128272073T>C , CM000667.2:g.128272073T>C	GRCh38
NC_000005.9:g.127607765T>C , CM000667.1:g.127607765T>C	GRCh37
NC_000005.8:g.127635664T>C	NCBI36
NG_008750.1:g.270971A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.7886A>G MANE Select	NP_001990.2:p.Gln2629Arg
ENST00000262464.9:c.7886A>G MANE Select	ENSP00000262464.4:p.Gln2629Arg
NM_001999.3:c.7886A>G	NP_001990.2:p.Gln2629Arg
ENST00000262464.8:c.7886A>G	ENSP00000262464.4:p.Gln2629Arg
ENST00000508053.5:c.7886A>G	ENSP00000424571.1:p.Gln2629Arg
ENST00000619499.4:c.7883A>G	ENSP00000482132.1:p.Gln2628Arg
ENST00000703782.1:n.1A>G
ENST00000703783.1:n.4670A>G
ENST00000703784.1:n.53A>G
XM_017009228.2:c.7733A>G	XP_016864717.1:p.Gln2578Arg