Canonical Allele Identifier: CA360757919

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335467T>C , CM000667.2:g.128335467T>C	GRCh38
NC_000005.9:g.127671159T>C , CM000667.1:g.127671159T>C	GRCh37
NC_000005.8:g.127699058T>C	NCBI36
NG_008750.1:g.207577A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3835A>G MANE Select	NP_001990.2:p.Arg1279Gly
ENST00000262464.9:c.3835A>G MANE Select	ENSP00000262464.4:p.Arg1279Gly
NM_001999.3:c.3835A>G	NP_001990.2:p.Arg1279Gly
ENST00000262464.8:c.3835A>G	ENSP00000262464.4:p.Arg1279Gly
ENST00000507835.5:c.385A>G	ENSP00000426839.1:p.Arg129Gly
ENST00000508053.5:c.3835A>G	ENSP00000424571.1:p.Arg1279Gly
ENST00000508989.5:c.3736A>G	ENSP00000425596.1:p.Arg1246Gly
ENST00000619499.4:c.3832A>G	ENSP00000482132.1:p.Arg1278Gly
ENST00000703783.1:n.619A>G
ENST00000703785.1:n.700A>G
XM_017009228.2:c.3682A>G	XP_016864717.1:p.Arg1228Gly