Canonical Allele Identifier: CA367669789
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777136A>G , CM000669.2:g.70777136A>G GRCh38
NC_000007.13:g.70242122A>G , CM000669.1:g.70242122A>G GRCh37
NC_000007.12:g.69880058A>G NCBI36
NG_034133.1:g.1183218A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700075.1:c.34A>G ENSP00000514784.1:p.Ile12Val
ENST00000342771.10:c.1966A>G MANE Select ENSP00000344087.4:p.Ile656Val
ENST00000439256.2:c.64A>G ENSP00000407058.2:p.Ile22Val
ENST00000443672.2:c.301A>G ENSP00000393548.2:p.Ile101Val
ENST00000449547.6:c.59A>G
ENST00000464768.2:n.634A>G
ENST00000644359.1:c.547A>G ENSP00000494561.1:p.Ile183Val
ENST00000644506.1:c.592A>G ENSP00000496672.1:p.Ile198Val
ENST00000644939.1:c.1963A>G ENSP00000496726.1:p.Ile655Val
ENST00000646136.1:n.277A>G
ENST00000647140.1:c.831A>G
ENST00000342771.8:c.1966A>G ENSP00000344087.4:p.Ile656Val
ENST00000406775.6:c.1894A>G ENSP00000385263.2:p.Ile632Val
ENST00000439256.1:c.64A>G
ENST00000464768.1:n.632A>G
ENST00000465899.1:n.463A>G
ENST00000498384.5:n.334A>G
ENST00000611706.4:c.1222A>G ENSP00000478134.1:p.Ile408Val
ENST00000615871.4:c.1150A>G ENSP00000479325.1:p.Ile384Val
NM_001127231.2:c.1894A>G NP_001120703.1:p.Ile632Val
NM_015570.3:c.1966A>G NP_056385.1:p.Ile656Val
XM_005250257.1:c.613A>G XP_005250314.1:p.Ile205Val
XM_011516010.1:c.1987A>G XP_011514312.1:p.Ile663Val
XM_011516011.1:c.1984A>G XP_011514313.1:p.Ile662Val
XM_011516012.1:c.1921A>G XP_011514314.1:p.Ile641Val
XM_011516013.1:c.1915A>G XP_011514315.1:p.Ile639Val
XM_011516014.1:c.1885A>G XP_011514316.1:p.Ile629Val
XM_011516015.1:c.1723A>G XP_011514317.1:p.Ile575Val
XM_011516016.1:c.1696A>G XP_011514318.1:p.Ile566Val
XM_011516017.1:c.1513A>G XP_011514319.1:p.Ile505Val
XM_011516018.1:c.1486A>G XP_011514320.1:p.Ile496Val
XM_005250257.2:c.613A>G XP_005250314.1:p.Ile205Val
XM_011516010.2:c.1987A>G XP_011514312.1:p.Ile663Val
XM_011516011.2:c.1984A>G XP_011514313.1:p.Ile662Val
XM_011516012.2:c.1921A>G XP_011514314.1:p.Ile641Val
XM_011516013.2:c.1915A>G XP_011514315.1:p.Ile639Val
XM_011516014.2:c.1885A>G XP_011514316.1:p.Ile629Val
XM_011516017.2:c.1513A>G XP_011514319.1:p.Ile505Val
XM_011516018.2:c.1486A>G XP_011514320.1:p.Ile496Val
XM_017011951.2:c.1987A>G XP_016867440.1:p.Ile663Val
NM_001127231.3:c.1894A>G NP_001120703.1:p.Ile632Val
NM_015570.4:c.1966A>G MANE Select NP_056385.1:p.Ile656Val