Canonical Allele Identifier: CA360757916

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671158C>G (hg19) ; chr5:g.128335466C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335466C>G , CM000667.2:g.128335466C>G	GRCh38
NC_000005.9:g.127671158C>G , CM000667.1:g.127671158C>G	GRCh37
NC_000005.8:g.127699057C>G	NCBI36
NG_008750.1:g.207578G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.620G>C
ENST00000703785.1:n.701G>C
ENST00000262464.9:c.3836G>C MANE Select	ENSP00000262464.4:p.Arg1279Thr
ENST00000262464.8:c.3836G>C	ENSP00000262464.4:p.Arg1279Thr
ENST00000507835.5:c.386G>C	ENSP00000426839.1:p.Arg129Thr
ENST00000508053.5:c.3836G>C	ENSP00000424571.1:p.Arg1279Thr
ENST00000508989.5:c.3737G>C	ENSP00000425596.1:p.Arg1246Thr
ENST00000619499.4:c.3833G>C	ENSP00000482132.1:p.Arg1278Thr
NM_001999.3:c.3836G>C	NP_001990.2:p.Arg1279Thr
XM_017009228.2:c.3683G>C	XP_016864717.1:p.Arg1228Thr
NM_001999.4:c.3836G>C MANE Select	NP_001990.2:p.Arg1279Thr