Canonical Allele Identifier: CA446309463

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668640T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332948T>G , CM000667.2:g.128332948T>G	GRCh38
NC_000005.9:g.127668640T>G , CM000667.1:g.127668640T>G	GRCh37
NC_000005.8:g.127696539T>G	NCBI36
NG_008750.1:g.210096A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.970A>C
ENST00000703785.1:n.1051A>C
ENST00000262464.9:c.4186A>C MANE Select	ENSP00000262464.4:p.Arg1396=
ENST00000262464.8:c.4186A>C	ENSP00000262464.4:p.Arg1396=
ENST00000507835.5:c.736A>C	ENSP00000426839.1:p.Arg246=
ENST00000508053.5:c.4186A>C	ENSP00000424571.1:p.Arg1396=
ENST00000508989.5:c.4087A>C	ENSP00000425596.1:p.Arg1363=
ENST00000619499.4:c.4183A>C	ENSP00000482132.1:p.Arg1395=
NM_001999.3:c.4186A>C	NP_001990.2:p.Arg1396=
XM_017009228.2:c.4033A>C	XP_016864717.1:p.Arg1345=
NM_001999.4:c.4186A>C MANE Select	NP_001990.2:p.Arg1396=