Canonical Allele Identifier: CA354074
Gene: AUTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 224147
ClinVar RCV Id: RCV000209947
dbSNP Id: rs869312878
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70766131dup , CM000669.2:g.70766131dup GRCh38
NC_000007.13:g.70231117dup , CM000669.1:g.70231117dup GRCh37
NC_000007.12:g.69869053dup NCBI36
NG_034133.1:g.1172213dup

Transcript Alleles

HGVS Amino-acid change
ENST00000342771.10:c.1486dup MANE Select ENSP00000344087.4:p.Gln496ProfsTer14
ENST00000443672.2:c.-180dup ENSP00000393548.2:n.-180dup
ENST00000644359.1:c.112dup ENSP00000494561.1:p.Gln38ProfsTer14
ENST00000644506.1:c.112dup ENSP00000496672.1:p.Gln38ProfsTer14
ENST00000644939.1:c.1483dup ENSP00000496726.1:p.Gln495ProfsTer14
ENST00000647140.1:c.330dup
ENST00000656200.1:c.112dup ENSP00000499508.1:p.Gln38ProfsTer14
ENST00000342771.8:c.1486dup ENSP00000344087.4:p.Gln496ProfsTer14
ENST00000406775.6:c.1486dup ENSP00000385263.2:p.Gln496ProfsTer14
ENST00000443672.1:c.111dup
ENST00000481994.1:n.93dup
ENST00000611706.4:c.742dup ENSP00000478134.1:p.Gln248ProfsTer14
ENST00000615871.4:c.742dup ENSP00000479325.1:p.Gln248ProfsTer14
NM_001127231.2:c.1486dup NP_001120703.1:p.Gln496ProfsTer14
NM_015570.3:c.1486dup NP_056385.1:p.Gln496ProfsTer14
XM_005250257.1:c.112dup XP_005250314.1:p.Gln38ProfsTer14
XM_011516010.1:c.1486dup XP_011514312.1:p.Gln496ProfsTer14
XM_011516011.1:c.1483dup XP_011514313.1:p.Gln495ProfsTer14
XM_011516012.1:c.1486dup XP_011514314.1:p.Gln496ProfsTer14
XM_011516013.1:c.1486dup XP_011514315.1:p.Gln496ProfsTer14
XM_011516014.1:c.1486dup XP_011514316.1:p.Gln496ProfsTer14
XM_011516015.1:c.1486dup XP_011514317.1:p.Gln496ProfsTer14
XM_011516016.1:c.1195dup XP_011514318.1:p.Gln399ProfsTer14
XM_011516017.1:c.1012dup XP_011514319.1:p.Gln338ProfsTer14
XM_011516018.1:c.985dup XP_011514320.1:p.Gln329ProfsTer14
XM_005250257.2:c.112dup XP_005250314.1:p.Gln38ProfsTer14
XM_011516010.2:c.1486dup XP_011514312.1:p.Gln496ProfsTer14
XM_011516011.2:c.1483dup XP_011514313.1:p.Gln495ProfsTer14
XM_011516012.2:c.1486dup XP_011514314.1:p.Gln496ProfsTer14
XM_011516013.2:c.1486dup XP_011514315.1:p.Gln496ProfsTer14
XM_011516014.2:c.1486dup XP_011514316.1:p.Gln496ProfsTer14
XM_011516017.2:c.1012dup XP_011514319.1:p.Gln338ProfsTer14
XM_011516018.2:c.985dup XP_011514320.1:p.Gln329ProfsTer14
XM_017011951.2:c.1486dup XP_016867440.1:p.Gln496ProfsTer14
NM_001127231.3:c.1486dup NP_001120703.1:p.Gln496ProfsTer14
NM_015570.4:c.1486dup MANE Select NP_056385.1:p.Gln496ProfsTer14
Search 100 bp 5'
Search 100 bp 3'