Canonical Allele Identifier: CA360760089

Gene: FBN2

Linked Data

• gnomAD v4: 5-128339056-C-A
• MyVariant Identifiers: chr5:g.127674748C>A (hg19) ; chr5:g.128339056C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339056C>A , CM000667.2:g.128339056C>A	GRCh38
NC_000005.9:g.127674748C>A , CM000667.1:g.127674748C>A	GRCh37
NC_000005.8:g.127702647C>A	NCBI36
NG_008750.1:g.203988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.133G>T
ENST00000703785.1:n.214G>T
ENST00000262464.9:c.3349G>T MANE Select	ENSP00000262464.4:p.Asp1117Tyr
ENST00000262464.8:c.3349G>T	ENSP00000262464.4:p.Asp1117Tyr
ENST00000507835.5:c.-102G>T	ENSP00000426839.1:n.-102G>T
ENST00000508053.5:c.3349G>T	ENSP00000424571.1:p.Asp1117Tyr
ENST00000508989.5:c.3250G>T	ENSP00000425596.1:p.Asp1084Tyr
ENST00000619499.4:c.3346G>T	ENSP00000482132.1:p.Asp1116Tyr
NM_001999.3:c.3349G>T	NP_001990.2:p.Asp1117Tyr
XM_017009228.2:c.3196G>T	XP_016864717.1:p.Asp1066Tyr
NM_001999.4:c.3349G>T MANE Select	NP_001990.2:p.Asp1117Tyr