Canonical Allele Identifier: CA1581267338

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330586G= , CM000667.2:g.128330586G=	GRCh38
NC_000005.9:g.127666278G= , CM000667.1:g.127666278G=	GRCh37
NC_000005.8:g.127694177G=	NCBI36
NG_008750.1:g.212458C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1116C=
ENST00000703785.1:n.1197C=
ENST00000262464.9:c.4332C= MANE Select	ENSP00000262464.4:p.Gly1444=
ENST00000262464.8:c.4332C=	ENSP00000262464.4:p.Gly1444=
ENST00000507835.5:c.882C=	ENSP00000426839.1:p.Gly294=
ENST00000508053.5:c.4332C=	ENSP00000424571.1:p.Gly1444=
ENST00000508989.5:c.4233C=	ENSP00000425596.1:p.Gly1411=
ENST00000619499.4:c.4329C=	ENSP00000482132.1:p.Gly1443=
NM_001999.3:c.4332C=	NP_001990.2:p.Gly1444=
XM_017009228.2:c.4179C=	XP_016864717.1:p.Gly1393=
NM_001999.4:c.4332C= MANE Select	NP_001990.2:p.Gly1444=