Canonical Allele Identifier: CA446310142
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127671196G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335504G>A , CM000667.2:g.128335504G>A GRCh38
NC_000005.9:g.127671196G>A , CM000667.1:g.127671196G>A GRCh37
NC_000005.8:g.127699095G>A NCBI36
NG_008750.1:g.207540C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.582C>T
ENST00000703785.1:n.663C>T
ENST00000262464.9:c.3798C>T MANE Select ENSP00000262464.4:p.Cys1266=
ENST00000262464.8:c.3798C>T ENSP00000262464.4:p.Cys1266=
ENST00000507835.5:c.348C>T ENSP00000426839.1:p.Cys116=
ENST00000508053.5:c.3798C>T ENSP00000424571.1:p.Cys1266=
ENST00000508989.5:c.3699C>T ENSP00000425596.1:p.Cys1233=
ENST00000619499.4:c.3795C>T ENSP00000482132.1:p.Cys1265=
NM_001999.3:c.3798C>T NP_001990.2:p.Cys1266=
XM_017009228.2:c.3645C>T XP_016864717.1:p.Cys1215=
NM_001999.4:c.3798C>T MANE Select NP_001990.2:p.Cys1266=