Canonical Allele Identifier: CA360759548

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2753042
• ClinVar RCV Id: RCV003527621
• dbSNP Id: rs1326519657
• gnomAD v2: 5-127673798-T-G
• gnomAD v4: 5-128338106-T-G
• MyVariant Identifiers: chr5:g.127673798T>G (hg19) ; chr5:g.128338106T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338106T>G , CM000667.2:g.128338106T>G	GRCh38
NC_000005.9:g.127673798T>G , CM000667.1:g.127673798T>G	GRCh37
NC_000005.8:g.127701697T>G	NCBI36
NG_008750.1:g.204938A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.273A>C
ENST00000703785.1:n.354A>C
ENST00000262464.9:c.3489A>C MANE Select	ENSP00000262464.4:p.Glu1163Asp
ENST00000262464.8:c.3489A>C	ENSP00000262464.4:p.Glu1163Asp
ENST00000507835.5:c.39A>C	ENSP00000426839.1:p.Glu13Asp
ENST00000508053.5:c.3489A>C	ENSP00000424571.1:p.Glu1163Asp
ENST00000508989.5:c.3390A>C	ENSP00000425596.1:p.Glu1130Asp
ENST00000619499.4:c.3486A>C	ENSP00000482132.1:p.Glu1162Asp
NM_001999.3:c.3489A>C	NP_001990.2:p.Glu1163Asp
XM_017009228.2:c.3336A>C	XP_016864717.1:p.Glu1112Asp
NM_001999.4:c.3489A>C MANE Select	NP_001990.2:p.Glu1163Asp