Canonical Allele Identifier: CA1581282254

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357290C= , CM000667.2:g.128357290C=	GRCh38
NC_000005.9:g.127692982C= , CM000667.1:g.127692982C=	GRCh37
NC_000005.8:g.127720881C=	NCBI36
NG_008750.1:g.185754G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2660G= MANE Select	ENSP00000262464.4:p.Gly887=
ENST00000262464.8:c.2660G=	ENSP00000262464.4:p.Gly887=
ENST00000508053.5:c.2660G=	ENSP00000424571.1:p.Gly887=
ENST00000508989.5:c.2561G=	ENSP00000425596.1:p.Gly854=
ENST00000619499.4:c.2657G=	ENSP00000482132.1:p.Gly886=
NM_001999.3:c.2660G=	NP_001990.2:p.Gly887=
XM_017009228.2:c.2507G=	XP_016864717.1:p.Gly836=
NM_001999.4:c.2660G= MANE Select	NP_001990.2:p.Gly887=