Canonical Allele Identifier: CA360759938

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127674680C>A (hg19) ; chr5:g.128338988C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338988C>A , CM000667.2:g.128338988C>A	GRCh38
NC_000005.9:g.127674680C>A , CM000667.1:g.127674680C>A	GRCh37
NC_000005.8:g.127702579C>A	NCBI36
NG_008750.1:g.204056G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.201G>T
ENST00000703785.1:n.282G>T
ENST00000262464.9:c.3417G>T MANE Select	ENSP00000262464.4:p.Glu1139Asp
ENST00000262464.8:c.3417G>T	ENSP00000262464.4:p.Glu1139Asp
ENST00000507835.5:c.-34G>T	ENSP00000426839.1:n.-34G>T
ENST00000508053.5:c.3417G>T	ENSP00000424571.1:p.Glu1139Asp
ENST00000508989.5:c.3318G>T	ENSP00000425596.1:p.Glu1106Asp
ENST00000619499.4:c.3414G>T	ENSP00000482132.1:p.Glu1138Asp
NM_001999.3:c.3417G>T	NP_001990.2:p.Glu1139Asp
XM_017009228.2:c.3264G>T	XP_016864717.1:p.Glu1088Asp
NM_001999.4:c.3417G>T MANE Select	NP_001990.2:p.Glu1139Asp