Canonical Allele Identifier: CA1581267382

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330676A= , CM000667.2:g.128330676A=	GRCh38
NC_000005.9:g.127666368A= , CM000667.1:g.127666368A=	GRCh37
NC_000005.8:g.127694267A=	NCBI36
NG_008750.1:g.212368T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1026T=
ENST00000703785.1:n.1107T=
ENST00000262464.9:c.4242T= MANE Select	ENSP00000262464.4:p.Asn1414=
ENST00000262464.8:c.4242T=	ENSP00000262464.4:p.Asn1414=
ENST00000507835.5:c.792T=	ENSP00000426839.1:p.Asn264=
ENST00000508053.5:c.4242T=	ENSP00000424571.1:p.Asn1414=
ENST00000508989.5:c.4143T=	ENSP00000425596.1:p.Asn1381=
ENST00000619499.4:c.4239T=	ENSP00000482132.1:p.Asn1413=
NM_001999.3:c.4242T=	NP_001990.2:p.Asn1414=
XM_017009228.2:c.4089T=	XP_016864717.1:p.Asn1363=
NM_001999.4:c.4242T= MANE Select	NP_001990.2:p.Asn1414=