Canonical Allele Identifier: CA360759924

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338983-T-A
• MyVariant Identifiers: chr5:g.127674675T>A (hg19) ; chr5:g.128338983T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338983T>A , CM000667.2:g.128338983T>A	GRCh38
NC_000005.9:g.127674675T>A , CM000667.1:g.127674675T>A	GRCh37
NC_000005.8:g.127702574T>A	NCBI36
NG_008750.1:g.204061A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.206A>T
ENST00000703785.1:n.287A>T
ENST00000262464.9:c.3422A>T MANE Select	ENSP00000262464.4:p.Glu1141Val
ENST00000262464.8:c.3422A>T	ENSP00000262464.4:p.Glu1141Val
ENST00000507835.5:c.-29A>T	ENSP00000426839.1:n.-29A>T
ENST00000508053.5:c.3422A>T	ENSP00000424571.1:p.Glu1141Val
ENST00000508989.5:c.3323A>T	ENSP00000425596.1:p.Glu1108Val
ENST00000619499.4:c.3419A>T	ENSP00000482132.1:p.Glu1140Val
NM_001999.3:c.3422A>T	NP_001990.2:p.Glu1141Val
XM_017009228.2:c.3269A>T	XP_016864717.1:p.Glu1090Val
NM_001999.4:c.3422A>T MANE Select	NP_001990.2:p.Glu1141Val