Canonical Allele Identifier: CA367665090
Community Standard Title: NM_015570.4(AUTS2):c.2915A>T (p.Glu972Val)
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70790131A>T , CM000669.2:g.70790131A>T GRCh38
NC_000007.13:g.70255117A>T , CM000669.1:g.70255117A>T GRCh37
NC_000007.12:g.69893053A>T NCBI36
NG_034133.1:g.1196213A>T

Transcript Alleles

HGVS Amino-acid Change
NM_015570.4:c.2915A>T MANE Select NP_056385.1:p.Glu972Val
ENST00000342771.10:c.2915A>T MANE Select ENSP00000344087.4:p.Glu972Val
NM_001127231.2:c.2843A>T NP_001120703.1:p.Glu948Val
NM_001127231.3:c.2843A>T NP_001120703.1:p.Glu948Val
NM_015570.3:c.2915A>T NP_056385.1:p.Glu972Val
ENST00000342771.8:c.2915A>T ENSP00000344087.4:p.Glu972Val
ENST00000406775.6:c.2843A>T ENSP00000385263.2:p.Glu948Val
ENST00000611706.4:c.2171A>T ENSP00000478134.1:p.Glu724Val
ENST00000615871.4:c.2099A>T ENSP00000479325.1:p.Glu700Val
ENST00000644359.1:c.1496A>T ENSP00000494561.1:p.Glu499Val
ENST00000644506.1:c.1541A>T ENSP00000496672.1:p.Glu514Val
ENST00000644939.1:c.2912A>T ENSP00000496726.1:p.Glu971Val
ENST00000647140.1:c.1780A>T
ENST00000700075.1:c.841A>T ENSP00000514784.1:n.841A>T
XM_005250257.1:c.1562A>T XP_005250314.1:p.Glu521Val
XM_005250257.2:c.1562A>T XP_005250314.1:p.Glu521Val
XM_011516010.1:c.2936A>T XP_011514312.1:p.Glu979Val
XM_011516010.2:c.2936A>T XP_011514312.1:p.Glu979Val
XM_011516011.1:c.2933A>T XP_011514313.1:p.Glu978Val
XM_011516011.2:c.2933A>T XP_011514313.1:p.Glu978Val
XM_011516012.1:c.2870A>T XP_011514314.1:p.Glu957Val
XM_011516012.2:c.2870A>T XP_011514314.1:p.Glu957Val
XM_011516013.1:c.2864A>T XP_011514315.1:p.Glu955Val
XM_011516013.2:c.2864A>T XP_011514315.1:p.Glu955Val
XM_011516014.1:c.2834A>T XP_011514316.1:p.Glu945Val
XM_011516014.2:c.2834A>T XP_011514316.1:p.Glu945Val
XM_011516015.1:c.2672A>T XP_011514317.1:p.Glu891Val
XM_011516016.1:c.2645A>T XP_011514318.1:p.Glu882Val
XM_011516017.1:c.2462A>T XP_011514319.1:p.Glu821Val
XM_011516017.2:c.2462A>T XP_011514319.1:p.Glu821Val
XM_011516018.1:c.2435A>T XP_011514320.1:p.Glu812Val
XM_011516018.2:c.2435A>T XP_011514320.1:p.Glu812Val
XM_017011951.2:c.*410A>T XP_016867440.1:n.*410A>T