Canonical Allele Identifier: CA1581270753

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338099G= , CM000667.2:g.128338099G=	GRCh38
NC_000005.9:g.127673791G= , CM000667.1:g.127673791G=	GRCh37
NC_000005.8:g.127701690G=	NCBI36
NG_008750.1:g.204945C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.280C=
ENST00000703785.1:n.361C=
ENST00000262464.9:c.3496C= MANE Select	ENSP00000262464.4:p.Pro1166=
ENST00000262464.8:c.3496C=	ENSP00000262464.4:p.Pro1166=
ENST00000507835.5:c.46C=	ENSP00000426839.1:p.Pro16=
ENST00000508053.5:c.3496C=	ENSP00000424571.1:p.Pro1166=
ENST00000508989.5:c.3397C=	ENSP00000425596.1:p.Pro1133=
ENST00000619499.4:c.3493C=	ENSP00000482132.1:p.Pro1165=
NM_001999.3:c.3496C=	NP_001990.2:p.Pro1166=
XM_017009228.2:c.3343C=	XP_016864717.1:p.Pro1115=
NM_001999.4:c.3496C= MANE Select	NP_001990.2:p.Pro1166=