Canonical Allele Identifier: CA446310619

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673744A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338052A>G , CM000667.2:g.128338052A>G	GRCh38
NC_000005.9:g.127673744A>G , CM000667.1:g.127673744A>G	GRCh37
NC_000005.8:g.127701643A>G	NCBI36
NG_008750.1:g.204992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.327T>C
ENST00000703785.1:n.408T>C
ENST00000262464.9:c.3543T>C MANE Select	ENSP00000262464.4:p.Phe1181=
ENST00000262464.8:c.3543T>C	ENSP00000262464.4:p.Phe1181=
ENST00000507835.5:c.93T>C	ENSP00000426839.1:p.Phe31=
ENST00000508053.5:c.3543T>C	ENSP00000424571.1:p.Phe1181=
ENST00000508989.5:c.3444T>C	ENSP00000425596.1:p.Phe1148=
ENST00000619499.4:c.3540T>C	ENSP00000482132.1:p.Phe1180=
NM_001999.3:c.3543T>C	NP_001990.2:p.Phe1181=
XM_017009228.2:c.3390T>C	XP_016864717.1:p.Phe1130=
NM_001999.4:c.3543T>C MANE Select	NP_001990.2:p.Phe1181=