Canonical Allele Identifier: CA446310117
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127671151A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335459A>G , CM000667.2:g.128335459A>G GRCh38
NC_000005.9:g.127671151A>G , CM000667.1:g.127671151A>G GRCh37
NC_000005.8:g.127699050A>G NCBI36
NG_008750.1:g.207585T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.627T>C
ENST00000703785.1:n.708T>C
ENST00000262464.9:c.3843T>C MANE Select ENSP00000262464.4:p.Cys1281=
ENST00000262464.8:c.3843T>C ENSP00000262464.4:p.Cys1281=
ENST00000507835.5:c.393T>C ENSP00000426839.1:p.Cys131=
ENST00000508053.5:c.3843T>C ENSP00000424571.1:p.Cys1281=
ENST00000508989.5:c.3744T>C ENSP00000425596.1:p.Cys1248=
ENST00000619499.4:c.3840T>C ENSP00000482132.1:p.Cys1280=
NM_001999.3:c.3843T>C NP_001990.2:p.Cys1281=
XM_017009228.2:c.3690T>C XP_016864717.1:p.Cys1230=
NM_001999.4:c.3843T>C MANE Select NP_001990.2:p.Cys1281=