Canonical Allele Identifier: CA360754083

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666335A>T (hg19) ; chr5:g.128330643A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330643A>T , CM000667.2:g.128330643A>T	GRCh38
NC_000005.9:g.127666335A>T , CM000667.1:g.127666335A>T	GRCh37
NC_000005.8:g.127694234A>T	NCBI36
NG_008750.1:g.212401T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1059T>A
ENST00000703785.1:n.1140T>A
ENST00000262464.9:c.4275T>A MANE Select	ENSP00000262464.4:p.Cys1425Ter
ENST00000262464.8:c.4275T>A	ENSP00000262464.4:p.Cys1425Ter
ENST00000507835.5:c.825T>A	ENSP00000426839.1:p.Cys275Ter
ENST00000508053.5:c.4275T>A	ENSP00000424571.1:p.Cys1425Ter
ENST00000508989.5:c.4176T>A	ENSP00000425596.1:p.Cys1392Ter
ENST00000619499.4:c.4272T>A	ENSP00000482132.1:p.Cys1424Ter
NM_001999.3:c.4275T>A	NP_001990.2:p.Cys1425Ter
XM_017009228.2:c.4122T>A	XP_016864717.1:p.Cys1374Ter
NM_001999.4:c.4275T>A MANE Select	NP_001990.2:p.Cys1425Ter