Canonical Allele Identifier: CA367669847
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777160C>G , CM000669.2:g.70777160C>G GRCh38
NC_000007.13:g.70242146C>G , CM000669.1:g.70242146C>G GRCh37
NC_000007.12:g.69880082C>G NCBI36
NG_034133.1:g.1183242C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.58C>G ENSP00000514784.1:p.Gln20Glu
ENST00000342771.10:c.1990C>G MANE Select ENSP00000344087.4:p.Gln664Glu
ENST00000439256.2:c.88C>G ENSP00000407058.2:p.Gln30Glu
ENST00000443672.2:c.325C>G ENSP00000393548.2:p.Gln109Glu
ENST00000449547.6:c.83C>G
ENST00000464768.2:n.658C>G
ENST00000644359.1:c.571C>G ENSP00000494561.1:p.Gln191Glu
ENST00000644506.1:c.616C>G ENSP00000496672.1:p.Gln206Glu
ENST00000644939.1:c.1987C>G ENSP00000496726.1:p.Gln663Glu
ENST00000646136.1:n.301C>G
ENST00000647140.1:c.855C>G
ENST00000342771.8:c.1990C>G ENSP00000344087.4:p.Gln664Glu
ENST00000406775.6:c.1918C>G ENSP00000385263.2:p.Gln640Glu
ENST00000439256.1:c.88C>G
ENST00000464768.1:n.656C>G
ENST00000465899.1:n.487C>G
ENST00000498384.5:n.358C>G
ENST00000611706.4:c.1246C>G ENSP00000478134.1:p.Gln416Glu
ENST00000615871.4:c.1174C>G ENSP00000479325.1:p.Gln392Glu
NM_001127231.2:c.1918C>G NP_001120703.1:p.Gln640Glu
NM_015570.3:c.1990C>G NP_056385.1:p.Gln664Glu
XM_005250257.1:c.637C>G XP_005250314.1:p.Gln213Glu
XM_011516010.1:c.2011C>G XP_011514312.1:p.Gln671Glu
XM_011516011.1:c.2008C>G XP_011514313.1:p.Gln670Glu
XM_011516012.1:c.1945C>G XP_011514314.1:p.Gln649Glu
XM_011516013.1:c.1939C>G XP_011514315.1:p.Gln647Glu
XM_011516014.1:c.1909C>G XP_011514316.1:p.Gln637Glu
XM_011516015.1:c.1747C>G XP_011514317.1:p.Gln583Glu
XM_011516016.1:c.1720C>G XP_011514318.1:p.Gln574Glu
XM_011516017.1:c.1537C>G XP_011514319.1:p.Gln513Glu
XM_011516018.1:c.1510C>G XP_011514320.1:p.Gln504Glu
XM_005250257.2:c.637C>G XP_005250314.1:p.Gln213Glu
XM_011516010.2:c.2011C>G XP_011514312.1:p.Gln671Glu
XM_011516011.2:c.2008C>G XP_011514313.1:p.Gln670Glu
XM_011516012.2:c.1945C>G XP_011514314.1:p.Gln649Glu
XM_011516013.2:c.1939C>G XP_011514315.1:p.Gln647Glu
XM_011516014.2:c.1909C>G XP_011514316.1:p.Gln637Glu
XM_011516017.2:c.1537C>G XP_011514319.1:p.Gln513Glu
XM_011516018.2:c.1510C>G XP_011514320.1:p.Gln504Glu
XM_017011951.2:c.2011C>G XP_016867440.1:p.Gln671Glu
NM_001127231.3:c.1918C>G NP_001120703.1:p.Gln640Glu
NM_015570.4:c.1990C>G MANE Select NP_056385.1:p.Gln664Glu