Canonical Allele Identifier: CA360759437

Gene: FBN2

Linked Data

• ClinVar Variation Id: 487464
• ClinVar RCV Id: RCV000576844
• dbSNP Id: rs138303817
• MyVariant Identifiers: chr5:g.127673773C>A (hg19) ; chr5:g.128338081C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338081C>A , CM000667.2:g.128338081C>A	GRCh38
NC_000005.9:g.127673773C>A , CM000667.1:g.127673773C>A	GRCh37
NC_000005.8:g.127701672C>A	NCBI36
NG_008750.1:g.204963G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.298G>T
ENST00000703785.1:n.379G>T
ENST00000262464.9:c.3514G>T MANE Select	ENSP00000262464.4:p.Gly1172Cys
ENST00000262464.8:c.3514G>T	ENSP00000262464.4:p.Gly1172Cys
ENST00000507835.5:c.64G>T	ENSP00000426839.1:p.Gly22Cys
ENST00000508053.5:c.3514G>T	ENSP00000424571.1:p.Gly1172Cys
ENST00000508989.5:c.3415G>T	ENSP00000425596.1:p.Gly1139Cys
ENST00000619499.4:c.3511G>T	ENSP00000482132.1:p.Gly1171Cys
NM_001999.3:c.3514G>T	NP_001990.2:p.Gly1172Cys
XM_017009228.2:c.3361G>T	XP_016864717.1:p.Gly1121Cys
NM_001999.4:c.3514G>T MANE Select	NP_001990.2:p.Gly1172Cys