Canonical Allele Identifier: CA2578396206

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128318830T>C , CM000667.2:g.128318830T>C	GRCh38
NC_000005.9:g.127654522T>C , CM000667.1:g.127654522T>C	GRCh37
NC_000005.8:g.127682421T>C	NCBI36
NG_008750.1:g.224214A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1378+49A>G
ENST00000703785.1:n.1459+49A>G
ENST00000262464.9:c.4594+49A>G MANE Select	ENSP00000262464.4:n.4594+49A>G
ENST00000262464.8:c.4594+49A>G	ENSP00000262464.4:n.4594+49A>G
ENST00000508053.5:c.4594+49A>G	ENSP00000424571.1:n.4594+49A>G
ENST00000619499.4:c.4591+49A>G	ENSP00000482132.1:n.4591+49A>G
NM_001999.3:c.4594+49A>G	NP_001990.2:n.4594+49A>G
XM_017009228.2:c.4441+49A>G	XP_016864717.1:n.4441+49A>G
NM_001999.4:c.4594+49A>G MANE Select	NP_001990.2:n.4594+49A>G