Canonical Allele Identifier: CA1581261054

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317200C= , CM000667.2:g.128317200C=	GRCh38
NC_000005.9:g.127652892C= , CM000667.1:g.127652892C=	GRCh37
NC_000005.8:g.127680791C=	NCBI36
NG_008750.1:g.225844G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1501+949G=
ENST00000703785.1:n.1582+949G=
ENST00000262464.9:c.4717+949G= MANE Select	ENSP00000262464.4:n.4717+949G=
ENST00000262464.8:c.4717+949G=	ENSP00000262464.4:n.4717+949G=
ENST00000508053.5:c.4717+949G=	ENSP00000424571.1:n.4717+949G=
ENST00000619499.4:c.4714+949G=	ENSP00000482132.1:n.4714+949G=
NM_001999.3:c.4717+949G=	NP_001990.2:n.4717+949G=
XM_017009228.2:c.4564+949G=	XP_016864717.1:n.4564+949G=
NM_001999.4:c.4717+949G= MANE Select	NP_001990.2:n.4717+949G=