Canonical Allele Identifier: CA360757487

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670953A>C (hg19) ; chr5:g.128335261A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335261A>C , CM000667.2:g.128335261A>C	GRCh38
NC_000005.9:g.127670953A>C , CM000667.1:g.127670953A>C	GRCh37
NC_000005.8:g.127698852A>C	NCBI36
NG_008750.1:g.207783T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.666T>G
ENST00000703785.1:n.747T>G
ENST00000262464.9:c.3882T>G MANE Select	ENSP00000262464.4:p.Cys1294Trp
ENST00000262464.8:c.3882T>G	ENSP00000262464.4:p.Cys1294Trp
ENST00000507835.5:c.432T>G	ENSP00000426839.1:p.Cys144Trp
ENST00000508053.5:c.3882T>G	ENSP00000424571.1:p.Cys1294Trp
ENST00000508989.5:c.3783T>G	ENSP00000425596.1:p.Cys1261Trp
ENST00000619499.4:c.3879T>G	ENSP00000482132.1:p.Cys1293Trp
NM_001999.3:c.3882T>G	NP_001990.2:p.Cys1294Trp
XM_017009228.2:c.3729T>G	XP_016864717.1:p.Cys1243Trp
NM_001999.4:c.3882T>G MANE Select	NP_001990.2:p.Cys1294Trp