Canonical Allele Identifier: CA360760074

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127674742A>G (hg19) ; chr5:g.128339050A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339050A>G , CM000667.2:g.128339050A>G	GRCh38
NC_000005.9:g.127674742A>G , CM000667.1:g.127674742A>G	GRCh37
NC_000005.8:g.127702641A>G	NCBI36
NG_008750.1:g.203994T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.139T>C
ENST00000703785.1:n.220T>C
ENST00000262464.9:c.3355T>C MANE Select	ENSP00000262464.4:p.Cys1119Arg
ENST00000262464.8:c.3355T>C	ENSP00000262464.4:p.Cys1119Arg
ENST00000507835.5:c.-96T>C	ENSP00000426839.1:n.-96T>C
ENST00000508053.5:c.3355T>C	ENSP00000424571.1:p.Cys1119Arg
ENST00000508989.5:c.3256T>C	ENSP00000425596.1:p.Cys1086Arg
ENST00000619499.4:c.3352T>C	ENSP00000482132.1:p.Cys1118Arg
NM_001999.3:c.3355T>C	NP_001990.2:p.Cys1119Arg
XM_017009228.2:c.3202T>C	XP_016864717.1:p.Cys1068Arg
NM_001999.4:c.3355T>C MANE Select	NP_001990.2:p.Cys1119Arg