Canonical Allele Identifier: CA360757519

Gene: FBN2

Linked Data

• dbSNP Id: rs1750804742
• MyVariant Identifiers: chr5:g.127670963G>C (hg19) ; chr5:g.128335271G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335271G>C , CM000667.2:g.128335271G>C	GRCh38
NC_000005.9:g.127670963G>C , CM000667.1:g.127670963G>C	GRCh37
NC_000005.8:g.127698862G>C	NCBI36
NG_008750.1:g.207773C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.656C>G
ENST00000703785.1:n.737C>G
ENST00000262464.9:c.3872C>G MANE Select	ENSP00000262464.4:p.Pro1291Arg
ENST00000262464.8:c.3872C>G	ENSP00000262464.4:p.Pro1291Arg
ENST00000507835.5:c.422C>G	ENSP00000426839.1:p.Pro141Arg
ENST00000508053.5:c.3872C>G	ENSP00000424571.1:p.Pro1291Arg
ENST00000508989.5:c.3773C>G	ENSP00000425596.1:p.Pro1258Arg
ENST00000619499.4:c.3869C>G	ENSP00000482132.1:p.Pro1290Arg
NM_001999.3:c.3872C>G	NP_001990.2:p.Pro1291Arg
XM_017009228.2:c.3719C>G	XP_016864717.1:p.Pro1240Arg
NM_001999.4:c.3872C>G MANE Select	NP_001990.2:p.Pro1291Arg