Canonical Allele Identifier: CA1581261088

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317257T= , CM000667.2:g.128317257T=	GRCh38
NC_000005.9:g.127652949T= , CM000667.1:g.127652949T=	GRCh37
NC_000005.8:g.127680848T=	NCBI36
NG_008750.1:g.225787A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1501+892A=
ENST00000703785.1:n.1582+892A=
ENST00000262464.9:c.4717+892A= MANE Select	ENSP00000262464.4:n.4717+892A=
ENST00000262464.8:c.4717+892A=	ENSP00000262464.4:n.4717+892A=
ENST00000508053.5:c.4717+892A=	ENSP00000424571.1:n.4717+892A=
ENST00000619499.4:c.4714+892A=	ENSP00000482132.1:n.4714+892A=
NM_001999.3:c.4717+892A=	NP_001990.2:n.4717+892A=
XM_017009228.2:c.4564+892A=	XP_016864717.1:n.4564+892A=
NM_001999.4:c.4717+892A= MANE Select	NP_001990.2:n.4717+892A=