Canonical Allele Identifier: CA351839

Gene: FBN2

Linked Data

• ClinVar Variation Id: 222629
• ClinVar RCV Id: RCV000208190
• dbSNP Id: rs869025428
• MyVariant Identifiers: chr5:g.127674753T>A (hg19) ; chr5:g.128339061T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339061T>A , CM000667.2:g.128339061T>A	GRCh38
NC_000005.9:g.127674753T>A , CM000667.1:g.127674753T>A	GRCh37
NC_000005.8:g.127702652T>A	NCBI36
NG_008750.1:g.203983A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.128A>T
ENST00000703785.1:n.209A>T
ENST00000262464.9:c.3344A>T MANE Select	ENSP00000262464.4:p.Asp1115Val
ENST00000262464.8:c.3344A>T	ENSP00000262464.4:p.Asp1115Val
ENST00000507835.5:c.-107A>T	ENSP00000426839.1:n.-107A>T
ENST00000508053.5:c.3344A>T	ENSP00000424571.1:p.Asp1115Val
ENST00000508989.5:c.3245A>T	ENSP00000425596.1:p.Asp1082Val
ENST00000619499.4:c.3341A>T	ENSP00000482132.1:p.Asp1114Val
NM_001999.3:c.3344A>T	NP_001990.2:p.Asp1115Val
XM_017009228.2:c.3191A>T	XP_016864717.1:p.Asp1064Val
NM_001999.4:c.3344A>T MANE Select	NP_001990.2:p.Asp1115Val