Canonical Allele Identifier: CA360759949

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2766736
• ClinVar RCV Id: RCV003526507
• MyVariant Identifiers: chr5:g.127674684A>C (hg19) ; chr5:g.128338992A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338992A>C , CM000667.2:g.128338992A>C	GRCh38
NC_000005.9:g.127674684A>C , CM000667.1:g.127674684A>C	GRCh37
NC_000005.8:g.127702583A>C	NCBI36
NG_008750.1:g.204052T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.197T>G
ENST00000703785.1:n.278T>G
ENST00000262464.9:c.3413T>G MANE Select	ENSP00000262464.4:p.Phe1138Cys
ENST00000262464.8:c.3413T>G	ENSP00000262464.4:p.Phe1138Cys
ENST00000507835.5:c.-38T>G	ENSP00000426839.1:n.-38T>G
ENST00000508053.5:c.3413T>G	ENSP00000424571.1:p.Phe1138Cys
ENST00000508989.5:c.3314T>G	ENSP00000425596.1:p.Phe1105Cys
ENST00000619499.4:c.3410T>G	ENSP00000482132.1:p.Phe1137Cys
NM_001999.3:c.3413T>G	NP_001990.2:p.Phe1138Cys
XM_017009228.2:c.3260T>G	XP_016864717.1:p.Phe1087Cys
NM_001999.4:c.3413T>G MANE Select	NP_001990.2:p.Phe1138Cys