Canonical Allele Identifier: CA446310121

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671159T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335467T>G , CM000667.2:g.128335467T>G	GRCh38
NC_000005.9:g.127671159T>G , CM000667.1:g.127671159T>G	GRCh37
NC_000005.8:g.127699058T>G	NCBI36
NG_008750.1:g.207577A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.619A>C
ENST00000703785.1:n.700A>C
ENST00000262464.9:c.3835A>C MANE Select	ENSP00000262464.4:p.Arg1279=
ENST00000262464.8:c.3835A>C	ENSP00000262464.4:p.Arg1279=
ENST00000507835.5:c.385A>C	ENSP00000426839.1:p.Arg129=
ENST00000508053.5:c.3835A>C	ENSP00000424571.1:p.Arg1279=
ENST00000508989.5:c.3736A>C	ENSP00000425596.1:p.Arg1246=
ENST00000619499.4:c.3832A>C	ENSP00000482132.1:p.Arg1278=
NM_001999.3:c.3835A>C	NP_001990.2:p.Arg1279=
XM_017009228.2:c.3682A>C	XP_016864717.1:p.Arg1228=
NM_001999.4:c.3835A>C MANE Select	NP_001990.2:p.Arg1279=