Canonical Allele Identifier: CA446309269
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127636588A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300896A>T , CM000667.2:g.128300896A>T GRCh38
NC_000005.9:g.127636588A>T , CM000667.1:g.127636588A>T GRCh37
NC_000005.8:g.127664487A>T NCBI36
NG_008750.1:g.242148T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2871T>A
ENST00000703785.1:n.2790T>A
ENST00000262464.9:c.6087T>A MANE Select ENSP00000262464.4:p.Pro2029=
ENST00000262464.8:c.6087T>A ENSP00000262464.4:p.Pro2029=
ENST00000508053.5:c.6087T>A ENSP00000424571.1:p.Pro2029=
ENST00000619499.4:c.6084T>A ENSP00000482132.1:p.Pro2028=
NM_001999.3:c.6087T>A NP_001990.2:p.Pro2029=
XM_017009228.2:c.5934T>A XP_016864717.1:p.Pro1978=
NM_001999.4:c.6087T>A MANE Select NP_001990.2:p.Pro2029=