Canonical Allele Identifier: CA1581293515

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393110G= , CM000667.2:g.128393110G=	GRCh38
NC_000005.9:g.127728803G= , CM000667.1:g.127728803G=	GRCh37
NC_000005.8:g.127756702G=	NCBI36
NG_008750.1:g.149933C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.1172+25C=
ENST00000262464.9:c.1465+25C= MANE Select	ENSP00000262464.4:n.1465+25C=
ENST00000262464.8:c.1465+25C=	ENSP00000262464.4:n.1465+25C=
ENST00000508053.5:c.1465+25C=	ENSP00000424571.1:n.1465+25C=
ENST00000508989.5:c.1366+25C=	ENSP00000425596.1:n.1366+25C=
ENST00000619499.4:c.1462+25C=	ENSP00000482132.1:n.1462+25C=
NM_001999.3:c.1465+25C=	NP_001990.2:n.1465+25C=
XM_017009228.2:c.1312+25C=	XP_016864717.1:n.1312+25C=
NM_001999.4:c.1465+25C= MANE Select	NP_001990.2:n.1465+25C=