Canonical Allele Identifier: CA360759336

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2775405
• ClinVar RCV Id: RCV003526643
• MyVariant Identifiers: chr5:g.127673740A>G (hg19) ; chr5:g.128338048A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338048A>G , CM000667.2:g.128338048A>G	GRCh38
NC_000005.9:g.127673740A>G , CM000667.1:g.127673740A>G	GRCh37
NC_000005.8:g.127701639A>G	NCBI36
NG_008750.1:g.204996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.331T>C
ENST00000703785.1:n.412T>C
ENST00000262464.9:c.3547T>C MANE Select	ENSP00000262464.4:p.Cys1183Arg
ENST00000262464.8:c.3547T>C	ENSP00000262464.4:p.Cys1183Arg
ENST00000507835.5:c.97T>C	ENSP00000426839.1:p.Cys33Arg
ENST00000508053.5:c.3547T>C	ENSP00000424571.1:p.Cys1183Arg
ENST00000508989.5:c.3448T>C	ENSP00000425596.1:p.Cys1150Arg
ENST00000619499.4:c.3544T>C	ENSP00000482132.1:p.Cys1182Arg
NM_001999.3:c.3547T>C	NP_001990.2:p.Cys1183Arg
XM_017009228.2:c.3394T>C	XP_016864717.1:p.Cys1132Arg
NM_001999.4:c.3547T>C MANE Select	NP_001990.2:p.Cys1183Arg