Canonical Allele Identifier: CA360767372

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693013A>G (hg19) ; chr5:g.128357321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357321A>G , CM000667.2:g.128357321A>G	GRCh38
NC_000005.9:g.127693013A>G , CM000667.1:g.127693013A>G	GRCh37
NC_000005.8:g.127720912A>G	NCBI36
NG_008750.1:g.185723T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2629T>C MANE Select	ENSP00000262464.4:p.Cys877Arg
ENST00000262464.8:c.2629T>C	ENSP00000262464.4:p.Cys877Arg
ENST00000508053.5:c.2629T>C	ENSP00000424571.1:p.Cys877Arg
ENST00000508989.5:c.2530T>C	ENSP00000425596.1:p.Cys844Arg
ENST00000619499.4:c.2626T>C	ENSP00000482132.1:p.Cys876Arg
NM_001999.3:c.2629T>C	NP_001990.2:p.Cys877Arg
XM_017009228.2:c.2476T>C	XP_016864717.1:p.Cys826Arg
NM_001999.4:c.2629T>C MANE Select	NP_001990.2:p.Cys877Arg