Canonical Allele Identifier: CA174027

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335562A>G , CM000667.2:g.128335562A>G	GRCh38
NC_000005.9:g.127671254A>G , CM000667.1:g.127671254A>G	GRCh37
NC_000005.8:g.127699153A>G	NCBI36
NG_008750.1:g.207482T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3740T>C MANE Select	NP_001990.2:p.Met1247Thr
ENST00000262464.9:c.3740T>C MANE Select	ENSP00000262464.4:p.Met1247Thr
NM_001999.3:c.3740T>C	NP_001990.2:p.Met1247Thr
ENST00000262464.8:c.3740T>C	ENSP00000262464.4:p.Met1247Thr
ENST00000507835.5:c.290T>C	ENSP00000426839.1:p.Met97Thr
ENST00000508053.5:c.3740T>C	ENSP00000424571.1:p.Met1247Thr
ENST00000508989.5:c.3641T>C	ENSP00000425596.1:p.Met1214Thr
ENST00000619499.4:c.3737T>C	ENSP00000482132.1:p.Met1246Thr
ENST00000703783.1:n.524T>C
ENST00000703785.1:n.605T>C
XM_017009228.2:c.3587T>C	XP_016864717.1:p.Met1196Thr