Canonical Allele Identifier: CA1581270873

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338304C= , CM000667.2:g.128338304C=	GRCh38
NC_000005.9:g.127673996C= , CM000667.1:g.127673996C=	GRCh37
NC_000005.8:g.127701895C=	NCBI36
NG_008750.1:g.204740G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-182G=
ENST00000703785.1:n.338-182G=
ENST00000262464.9:c.3473-182G= MANE Select	ENSP00000262464.4:n.3473-182G=
ENST00000262464.8:c.3473-182G=	ENSP00000262464.4:n.3473-182G=
ENST00000507835.5:c.23-182G=	ENSP00000426839.1:n.23-182G=
ENST00000508053.5:c.3473-182G=	ENSP00000424571.1:n.3473-182G=
ENST00000508989.5:c.3374-182G=	ENSP00000425596.1:n.3374-182G=
ENST00000619499.4:c.3470-182G=	ENSP00000482132.1:n.3470-182G=
NM_001999.3:c.3473-182G=	NP_001990.2:n.3473-182G=
XM_017009228.2:c.3320-182G=	XP_016864717.1:n.3320-182G=
NM_001999.4:c.3473-182G= MANE Select	NP_001990.2:n.3473-182G=