Canonical Allele Identifier: CA5978867
Community Standard Title: NM_024783.4(AGBL2):c.2381C>T (p.Thr794Ile)
Gene: AGBL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47667023G>A , CM000673.2:g.47667023G>A GRCh38
NC_000011.9:g.47688575G>A , CM000673.1:g.47688575G>A GRCh37
NC_000011.8:g.47645151G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_024783.4:c.2381C>T MANE Select NP_079059.2:p.Thr794Ile
ENST00000525123.6:c.2381C>T MANE Select ENSP00000435582.1:p.Thr794Ile
NM_024783.3:c.2381C>T NP_079059.2:p.Thr794Ile
ENST00000357610.7:c.2387C>T ENSP00000350228.3:p.Thr796Ile
ENST00000525123.5:c.2381C>T ENSP00000435582.1:p.Thr794Ile
ENST00000528244.5:c.2267C>T ENSP00000436630.1:p.Thr756Ile
ENST00000528609.5:c.888C>T
XM_005253138.3:c.2267C>T XP_005253195.1:p.Thr756Ile
XM_005253138.5:c.2267C>T XP_005253195.1:p.Thr756Ile
XM_005253139.3:c.2226+548C>T XP_005253196.1:n.2226+548C>T
XM_005253139.5:c.2226+548C>T XP_005253196.1:n.2226+548C>T
XM_005253140.3:c.2100+1818C>T XP_005253197.1:n.2100+1818C>T
XM_005253140.5:c.2100+1818C>T XP_005253197.1:n.2100+1818C>T
XM_006718327.2:c.2213C>T XP_006718390.1:p.Thr738Ile
XM_006718327.4:c.2213C>T XP_006718390.1:p.Thr738Ile
XM_006718328.2:c.2172+548C>T XP_006718391.1:n.2172+548C>T
XM_006718328.4:c.2172+548C>T XP_006718391.1:n.2172+548C>T
XM_011520372.1:c.2267C>T XP_011518674.1:p.Thr756Ile
XM_011520372.3:c.2267C>T XP_011518674.1:p.Thr756Ile
XM_011520373.1:c.2267C>T XP_011518675.1:p.Thr756Ile
XM_011520373.3:c.2267C>T XP_011518675.1:p.Thr756Ile
XM_011520374.1:c.2159C>T XP_011518676.1:p.Thr720Ile
XM_011520374.3:c.2159C>T XP_011518676.1:p.Thr720Ile
XM_011520375.1:c.2132C>T XP_011518677.1:p.Thr711Ile
XM_011520375.3:c.2132C>T XP_011518677.1:p.Thr711Ile
XM_011520376.1:c.1973C>T XP_011518678.1:p.Thr658Ile
XM_011520376.3:c.1973C>T XP_011518678.1:p.Thr658Ile
XM_011520377.1:c.1973C>T XP_011518679.1:p.Thr658Ile
XM_011520377.2:c.1973C>T XP_011518679.1:p.Thr658Ile
XM_011520378.1:c.1973C>T XP_011518680.1:p.Thr658Ile
XM_011520378.2:c.1973C>T XP_011518680.1:p.Thr658Ile
XM_011520379.1:c.1973C>T XP_011518681.1:p.Thr658Ile
XM_011520379.2:c.1973C>T XP_011518681.1:p.Thr658Ile
XM_011520380.1:c.1973C>T XP_011518682.1:p.Thr658Ile
XM_011520381.1:c.2100+1818C>T XP_011518683.1:n.2100+1818C>T
XM_011520381.3:c.2100+1818C>T XP_011518683.1:n.2100+1818C>T
XM_011520382.1:c.2381C>T XP_011518684.1:p.Thr794Ile
XM_017018331.2:c.2267C>T XP_016873820.1:p.Thr756Ile
XM_017018332.1:c.2153C>T XP_016873821.1:p.Thr718Ile
XR_001747981.2:n.2049+1818C>T
XR_242824.3:n.2829C>T
XR_242824.5:n.2347C>T
XR_930908.1:n.2688+1818C>T
XR_930908.3:n.2206+1818C>T
XR_930909.1:n.2688+1818C>T
XR_930909.3:n.2206+1818C>T