Canonical Allele Identifier: CA3394972

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128328770A>C , CM000667.2:g.128328770A>C	GRCh38
NC_000005.9:g.127664462A>C , CM000667.1:g.127664462A>C	GRCh37
NC_000005.8:g.127692361A>C	NCBI36
NG_008750.1:g.214274T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.4397T>G MANE Select	NP_001990.2:p.Leu1466Arg
ENST00000262464.9:c.4397T>G MANE Select	ENSP00000262464.4:p.Leu1466Arg
NM_001999.3:c.4397T>G	NP_001990.2:p.Leu1466Arg
ENST00000262464.8:c.4397T>G	ENSP00000262464.4:p.Leu1466Arg
ENST00000507835.5:c.947T>G	ENSP00000426839.1:p.Leu316Arg
ENST00000508053.5:c.4397T>G	ENSP00000424571.1:p.Leu1466Arg
ENST00000508989.5:c.4298T>G	ENSP00000425596.1:p.Leu1433Arg
ENST00000619499.4:c.4394T>G	ENSP00000482132.1:p.Leu1465Arg
ENST00000703783.1:n.1181T>G
ENST00000703785.1:n.1262T>G
ENST00000703786.1:n.1003T>G
XM_017009228.2:c.4244T>G	XP_016864717.1:p.Leu1415Arg