Canonical Allele Identifier: CA360758092

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671237A>G (hg19) ; chr5:g.128335545A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335545A>G , CM000667.2:g.128335545A>G	GRCh38
NC_000005.9:g.127671237A>G , CM000667.1:g.127671237A>G	GRCh37
NC_000005.8:g.127699136A>G	NCBI36
NG_008750.1:g.207499T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.541T>C
ENST00000703785.1:n.622T>C
ENST00000262464.9:c.3757T>C MANE Select	ENSP00000262464.4:p.Cys1253Arg
ENST00000262464.8:c.3757T>C	ENSP00000262464.4:p.Cys1253Arg
ENST00000507835.5:c.307T>C	ENSP00000426839.1:p.Cys103Arg
ENST00000508053.5:c.3757T>C	ENSP00000424571.1:p.Cys1253Arg
ENST00000508989.5:c.3658T>C	ENSP00000425596.1:p.Cys1220Arg
ENST00000619499.4:c.3754T>C	ENSP00000482132.1:p.Cys1252Arg
NM_001999.3:c.3757T>C	NP_001990.2:p.Cys1253Arg
XM_017009228.2:c.3604T>C	XP_016864717.1:p.Cys1202Arg
NM_001999.4:c.3757T>C MANE Select	NP_001990.2:p.Cys1253Arg