Canonical Allele Identifier: CA360767457
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357357C>A , CM000667.2:g.128357357C>A GRCh38
NC_000005.9:g.127693049C>A , CM000667.1:g.127693049C>A GRCh37
NC_000005.8:g.127720948C>A NCBI36
NG_008750.1:g.185687G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2593G>T MANE Select ENSP00000262464.4:p.Ala865Ser
ENST00000262464.8:c.2593G>T ENSP00000262464.4:p.Ala865Ser
ENST00000508053.5:c.2593G>T ENSP00000424571.1:p.Ala865Ser
ENST00000508989.5:c.2494G>T ENSP00000425596.1:p.Ala832Ser
ENST00000619499.4:c.2590G>T ENSP00000482132.1:p.Ala864Ser
NM_001999.3:c.2593G>T NP_001990.2:p.Ala865Ser
XM_017009228.2:c.2440G>T XP_016864717.1:p.Ala814Ser
NM_001999.4:c.2593G>T MANE Select NP_001990.2:p.Ala865Ser