Canonical Allele Identifier: CA1581282293

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357401A= , CM000667.2:g.128357401A=	GRCh38
NC_000005.9:g.127693093A= , CM000667.1:g.127693093A=	GRCh37
NC_000005.8:g.127720992A=	NCBI36
NG_008750.1:g.185643T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2555-6T= MANE Select	ENSP00000262464.4:n.2555-6T=
ENST00000262464.8:c.2555-6T=	ENSP00000262464.4:n.2555-6T=
ENST00000508053.5:c.2555-6T=	ENSP00000424571.1:n.2555-6T=
ENST00000508989.5:c.2456-6T=	ENSP00000425596.1:n.2456-6T=
ENST00000619499.4:c.2552-6T=	ENSP00000482132.1:n.2552-6T=
NM_001999.3:c.2555-6T=	NP_001990.2:n.2555-6T=
XM_017009228.2:c.2402-6T=	XP_016864717.1:n.2402-6T=
NM_001999.4:c.2555-6T= MANE Select	NP_001990.2:n.2555-6T=