Canonical Allele Identifier: CA324975

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213408
• ClinVar RCV Id: RCV000200404
• dbSNP Id: rs863223606
• MyVariant Identifiers: chr5:g.127668694A>G (hg19) ; chr5:g.128333002A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333002A>G , CM000667.2:g.128333002A>G	GRCh38
NC_000005.9:g.127668694A>G , CM000667.1:g.127668694A>G	GRCh37
NC_000005.8:g.127696593A>G	NCBI36
NG_008750.1:g.210042T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.916T>C
ENST00000703785.1:n.997T>C
ENST00000262464.9:c.4132T>C MANE Select	ENSP00000262464.4:p.Cys1378Arg
ENST00000262464.8:c.4132T>C	ENSP00000262464.4:p.Cys1378Arg
ENST00000507835.5:c.682T>C	ENSP00000426839.1:p.Cys228Arg
ENST00000508053.5:c.4132T>C	ENSP00000424571.1:p.Cys1378Arg
ENST00000508989.5:c.4033T>C	ENSP00000425596.1:p.Cys1345Arg
ENST00000619499.4:c.4129T>C	ENSP00000482132.1:p.Cys1377Arg
NM_001999.3:c.4132T>C	NP_001990.2:p.Cys1378Arg
XM_017009228.2:c.3979T>C	XP_016864717.1:p.Cys1327Arg
NM_001999.4:c.4132T>C MANE Select	NP_001990.2:p.Cys1378Arg