Canonical Allele Identifier: CA446309272
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127636591A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300899A>G , CM000667.2:g.128300899A>G GRCh38
NC_000005.9:g.127636591A>G , CM000667.1:g.127636591A>G GRCh37
NC_000005.8:g.127664490A>G NCBI36
NG_008750.1:g.242145T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2868T>C
ENST00000703785.1:n.2787T>C
ENST00000262464.9:c.6084T>C MANE Select ENSP00000262464.4:p.Ser2028=
ENST00000262464.8:c.6084T>C ENSP00000262464.4:p.Ser2028=
ENST00000508053.5:c.6084T>C ENSP00000424571.1:p.Ser2028=
ENST00000619499.4:c.6081T>C ENSP00000482132.1:p.Ser2027=
NM_001999.3:c.6084T>C NP_001990.2:p.Ser2028=
XM_017009228.2:c.5931T>C XP_016864717.1:p.Ser1977=
NM_001999.4:c.6084T>C MANE Select NP_001990.2:p.Ser2028=