Canonical Allele Identifier: CA360767445

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693043T>C (hg19) ; chr5:g.128357351T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357351T>C , CM000667.2:g.128357351T>C	GRCh38
NC_000005.9:g.127693043T>C , CM000667.1:g.127693043T>C	GRCh37
NC_000005.8:g.127720942T>C	NCBI36
NG_008750.1:g.185693A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2599A>G MANE Select	ENSP00000262464.4:p.Arg867Gly
ENST00000262464.8:c.2599A>G	ENSP00000262464.4:p.Arg867Gly
ENST00000508053.5:c.2599A>G	ENSP00000424571.1:p.Arg867Gly
ENST00000508989.5:c.2500A>G	ENSP00000425596.1:p.Arg834Gly
ENST00000619499.4:c.2596A>G	ENSP00000482132.1:p.Arg866Gly
NM_001999.3:c.2599A>G	NP_001990.2:p.Arg867Gly
XM_017009228.2:c.2446A>G	XP_016864717.1:p.Arg816Gly
NM_001999.4:c.2599A>G MANE Select	NP_001990.2:p.Arg867Gly