Canonical Allele Identifier: CA1581268320

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332763G= , CM000667.2:g.128332763G=	GRCh38
NC_000005.9:g.127668455G= , CM000667.1:g.127668455G=	GRCh37
NC_000005.8:g.127696354G=	NCBI36
NG_008750.1:g.210281C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+149C=
ENST00000703785.1:n.1087+149C=
ENST00000262464.9:c.4222+149C= MANE Select	ENSP00000262464.4:n.4222+149C=
ENST00000262464.8:c.4222+149C=	ENSP00000262464.4:n.4222+149C=
ENST00000507835.5:c.772+149C=	ENSP00000426839.1:n.772+149C=
ENST00000508053.5:c.4222+149C=	ENSP00000424571.1:n.4222+149C=
ENST00000508989.5:c.4123+149C=	ENSP00000425596.1:n.4123+149C=
ENST00000619499.4:c.4219+149C=	ENSP00000482132.1:n.4219+149C=
NM_001999.3:c.4222+149C=	NP_001990.2:n.4222+149C=
XM_017009228.2:c.4069+149C=	XP_016864717.1:n.4069+149C=
NM_001999.4:c.4222+149C= MANE Select	NP_001990.2:n.4222+149C=