Canonical Allele Identifier: CA1716165984
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70766174G= , CM000669.2:g.70766174G= GRCh38
NC_000007.13:g.70231160G= , CM000669.1:g.70231160G= GRCh37
NC_000007.12:g.69869096G= NCBI36
NG_034133.1:g.1172256G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342771.10:c.1529G= MANE Select ENSP00000344087.4:p.Arg510=
ENST00000443672.2:c.-137G= ENSP00000393548.2:n.-137G=
ENST00000644359.1:c.155G= ENSP00000494561.1:p.Arg52=
ENST00000644506.1:c.155G= ENSP00000496672.1:p.Arg52=
ENST00000644939.1:c.1526G= ENSP00000496726.1:p.Arg509=
ENST00000647140.1:c.373G=
ENST00000656200.1:c.155G= ENSP00000499508.1:p.Arg52=
ENST00000342771.8:c.1529G= ENSP00000344087.4:p.Arg510=
ENST00000406775.6:c.1529G= ENSP00000385263.2:p.Arg510=
ENST00000443672.1:c.154G=
ENST00000481994.1:n.136G=
ENST00000611706.4:c.785G= ENSP00000478134.1:p.Arg262=
ENST00000615871.4:c.785G= ENSP00000479325.1:p.Arg262=
NM_001127231.2:c.1529G= NP_001120703.1:p.Arg510=
NM_015570.3:c.1529G= NP_056385.1:p.Arg510=
XM_005250257.1:c.155G= XP_005250314.1:p.Arg52=
XM_011516010.1:c.1529G= XP_011514312.1:p.Arg510=
XM_011516011.1:c.1526G= XP_011514313.1:p.Arg509=
XM_011516012.1:c.1529G= XP_011514314.1:p.Arg510=
XM_011516013.1:c.1529G= XP_011514315.1:p.Arg510=
XM_011516014.1:c.1529G= XP_011514316.1:p.Arg510=
XM_011516015.1:c.1529G= XP_011514317.1:p.Arg510=
XM_011516016.1:c.1238G= XP_011514318.1:p.Arg413=
XM_011516017.1:c.1055G= XP_011514319.1:p.Arg352=
XM_011516018.1:c.1028G= XP_011514320.1:p.Arg343=
XM_005250257.2:c.155G= XP_005250314.1:p.Arg52=
XM_011516010.2:c.1529G= XP_011514312.1:p.Arg510=
XM_011516011.2:c.1526G= XP_011514313.1:p.Arg509=
XM_011516012.2:c.1529G= XP_011514314.1:p.Arg510=
XM_011516013.2:c.1529G= XP_011514315.1:p.Arg510=
XM_011516014.2:c.1529G= XP_011514316.1:p.Arg510=
XM_011516017.2:c.1055G= XP_011514319.1:p.Arg352=
XM_011516018.2:c.1028G= XP_011514320.1:p.Arg343=
XM_017011951.2:c.1529G= XP_016867440.1:p.Arg510=
NM_001127231.3:c.1529G= NP_001120703.1:p.Arg510=
NM_015570.4:c.1529G= MANE Select NP_056385.1:p.Arg510=