Canonical Allele Identifier: CA360767454
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357356G>A , CM000667.2:g.128357356G>A GRCh38
NC_000005.9:g.127693048G>A , CM000667.1:g.127693048G>A GRCh37
NC_000005.8:g.127720947G>A NCBI36
NG_008750.1:g.185688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2594C>T MANE Select ENSP00000262464.4:p.Ala865Val
ENST00000262464.8:c.2594C>T ENSP00000262464.4:p.Ala865Val
ENST00000508053.5:c.2594C>T ENSP00000424571.1:p.Ala865Val
ENST00000508989.5:c.2495C>T ENSP00000425596.1:p.Ala832Val
ENST00000619499.4:c.2591C>T ENSP00000482132.1:p.Ala864Val
NM_001999.3:c.2594C>T NP_001990.2:p.Ala865Val
XM_017009228.2:c.2441C>T XP_016864717.1:p.Ala814Val
NM_001999.4:c.2594C>T MANE Select NP_001990.2:p.Ala865Val