Canonical Allele Identifier: CA360759555

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673800C>T (hg19) ; chr5:g.128338108C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338108C>T , CM000667.2:g.128338108C>T	GRCh38
NC_000005.9:g.127673800C>T , CM000667.1:g.127673800C>T	GRCh37
NC_000005.8:g.127701699C>T	NCBI36
NG_008750.1:g.204936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.271G>A
ENST00000703785.1:n.352G>A
ENST00000262464.9:c.3487G>A MANE Select	ENSP00000262464.4:p.Glu1163Lys
ENST00000262464.8:c.3487G>A	ENSP00000262464.4:p.Glu1163Lys
ENST00000507835.5:c.37G>A	ENSP00000426839.1:p.Glu13Lys
ENST00000508053.5:c.3487G>A	ENSP00000424571.1:p.Glu1163Lys
ENST00000508989.5:c.3388G>A	ENSP00000425596.1:p.Glu1130Lys
ENST00000619499.4:c.3484G>A	ENSP00000482132.1:p.Glu1162Lys
NM_001999.3:c.3487G>A	NP_001990.2:p.Glu1163Lys
XM_017009228.2:c.3334G>A	XP_016864717.1:p.Glu1112Lys
NM_001999.4:c.3487G>A MANE Select	NP_001990.2:p.Glu1163Lys