Canonical Allele Identifier: CA360753982

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2032858
• ClinVar RCV Id: RCV002881487
• MyVariant Identifiers: chr5:g.127666310A>C (hg19) ; chr5:g.128330618A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330618A>C , CM000667.2:g.128330618A>C	GRCh38
NC_000005.9:g.127666310A>C , CM000667.1:g.127666310A>C	GRCh37
NC_000005.8:g.127694209A>C	NCBI36
NG_008750.1:g.212426T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1084T>G
ENST00000703785.1:n.1165T>G
ENST00000262464.9:c.4300T>G MANE Select	ENSP00000262464.4:p.Cys1434Gly
ENST00000262464.8:c.4300T>G	ENSP00000262464.4:p.Cys1434Gly
ENST00000507835.5:c.850T>G	ENSP00000426839.1:p.Cys284Gly
ENST00000508053.5:c.4300T>G	ENSP00000424571.1:p.Cys1434Gly
ENST00000508989.5:c.4201T>G	ENSP00000425596.1:p.Cys1401Gly
ENST00000619499.4:c.4297T>G	ENSP00000482132.1:p.Cys1433Gly
NM_001999.3:c.4300T>G	NP_001990.2:p.Cys1434Gly
XM_017009228.2:c.4147T>G	XP_016864717.1:p.Cys1383Gly
NM_001999.4:c.4300T>G MANE Select	NP_001990.2:p.Cys1434Gly