Canonical Allele Identifier: CA360740078
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305067A>T , CM000667.2:g.128305067A>T GRCh38
NC_000005.9:g.127640759A>T , CM000667.1:g.127640759A>T GRCh37
NC_000005.8:g.127668658A>T NCBI36
NG_008750.1:g.237977T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2474T>A
ENST00000703785.1:n.2393T>A
ENST00000262464.9:c.5690T>A MANE Select ENSP00000262464.4:p.Leu1897Ter
ENST00000262464.8:c.5690T>A ENSP00000262464.4:p.Leu1897Ter
ENST00000508053.5:c.5690T>A ENSP00000424571.1:p.Leu1897Ter
ENST00000619499.4:c.5687T>A ENSP00000482132.1:p.Leu1896Ter
NM_001999.3:c.5690T>A NP_001990.2:p.Leu1897Ter
XM_017009228.2:c.5537T>A XP_016864717.1:p.Leu1846Ter
NM_001999.4:c.5690T>A MANE Select NP_001990.2:p.Leu1897Ter