Canonical Allele Identifier: CA1581240647

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128274653T= , CM000667.2:g.128274653T=	GRCh38
NC_000005.9:g.127610345T= , CM000667.1:g.127610345T=	GRCh37
NC_000005.8:g.127638244T=	NCBI36
NG_008750.1:g.268391A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.4409A=
ENST00000262464.9:c.7625A= MANE Select	ENSP00000262464.4:p.Asn2542=
ENST00000262464.8:c.7625A=	ENSP00000262464.4:p.Asn2542=
ENST00000508053.5:c.7625A=	ENSP00000424571.1:p.Asn2542=
ENST00000619499.4:c.7622A=	ENSP00000482132.1:p.Asn2541=
NM_001999.3:c.7625A=	NP_001990.2:p.Asn2542=
XM_017009228.2:c.7472A=	XP_016864717.1:p.Asn2491=
NM_001999.4:c.7625A= MANE Select	NP_001990.2:p.Asn2542=