Canonical Allele Identifier: CA360757854

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670977T>G (hg19) ; chr5:g.128335285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335285T>G , CM000667.2:g.128335285T>G	GRCh38
NC_000005.9:g.127670977T>G , CM000667.1:g.127670977T>G	GRCh37
NC_000005.8:g.127698876T>G	NCBI36
NG_008750.1:g.207759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.642A>C
ENST00000703785.1:n.723A>C
ENST00000262464.9:c.3858A>C MANE Select	ENSP00000262464.4:p.Glu1286Asp
ENST00000262464.8:c.3858A>C	ENSP00000262464.4:p.Glu1286Asp
ENST00000507835.5:c.408A>C	ENSP00000426839.1:p.Glu136Asp
ENST00000508053.5:c.3858A>C	ENSP00000424571.1:p.Glu1286Asp
ENST00000508989.5:c.3759A>C	ENSP00000425596.1:p.Glu1253Asp
ENST00000619499.4:c.3855A>C	ENSP00000482132.1:p.Glu1285Asp
NM_001999.3:c.3858A>C	NP_001990.2:p.Glu1286Asp
XM_017009228.2:c.3705A>C	XP_016864717.1:p.Glu1235Asp
NM_001999.4:c.3858A>C MANE Select	NP_001990.2:p.Glu1286Asp