Canonical Allele Identifier: CA367669822
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777151T>G , CM000669.2:g.70777151T>G GRCh38
NC_000007.13:g.70242137T>G , CM000669.1:g.70242137T>G GRCh37
NC_000007.12:g.69880073T>G NCBI36
NG_034133.1:g.1183233T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.49T>G ENSP00000514784.1:p.Tyr17Asp
ENST00000342771.10:c.1981T>G MANE Select ENSP00000344087.4:p.Tyr661Asp
ENST00000439256.2:c.79T>G ENSP00000407058.2:p.Tyr27Asp
ENST00000443672.2:c.316T>G ENSP00000393548.2:p.Tyr106Asp
ENST00000449547.6:c.74T>G
ENST00000464768.2:n.649T>G
ENST00000644359.1:c.562T>G ENSP00000494561.1:p.Tyr188Asp
ENST00000644506.1:c.607T>G ENSP00000496672.1:p.Tyr203Asp
ENST00000644939.1:c.1978T>G ENSP00000496726.1:p.Tyr660Asp
ENST00000646136.1:n.292T>G
ENST00000647140.1:c.846T>G
ENST00000342771.8:c.1981T>G ENSP00000344087.4:p.Tyr661Asp
ENST00000406775.6:c.1909T>G ENSP00000385263.2:p.Tyr637Asp
ENST00000439256.1:c.79T>G
ENST00000464768.1:n.647T>G
ENST00000465899.1:n.478T>G
ENST00000498384.5:n.349T>G
ENST00000611706.4:c.1237T>G ENSP00000478134.1:p.Tyr413Asp
ENST00000615871.4:c.1165T>G ENSP00000479325.1:p.Tyr389Asp
NM_001127231.2:c.1909T>G NP_001120703.1:p.Tyr637Asp
NM_015570.3:c.1981T>G NP_056385.1:p.Tyr661Asp
XM_005250257.1:c.628T>G XP_005250314.1:p.Tyr210Asp
XM_011516010.1:c.2002T>G XP_011514312.1:p.Tyr668Asp
XM_011516011.1:c.1999T>G XP_011514313.1:p.Tyr667Asp
XM_011516012.1:c.1936T>G XP_011514314.1:p.Tyr646Asp
XM_011516013.1:c.1930T>G XP_011514315.1:p.Tyr644Asp
XM_011516014.1:c.1900T>G XP_011514316.1:p.Tyr634Asp
XM_011516015.1:c.1738T>G XP_011514317.1:p.Tyr580Asp
XM_011516016.1:c.1711T>G XP_011514318.1:p.Tyr571Asp
XM_011516017.1:c.1528T>G XP_011514319.1:p.Tyr510Asp
XM_011516018.1:c.1501T>G XP_011514320.1:p.Tyr501Asp
XM_005250257.2:c.628T>G XP_005250314.1:p.Tyr210Asp
XM_011516010.2:c.2002T>G XP_011514312.1:p.Tyr668Asp
XM_011516011.2:c.1999T>G XP_011514313.1:p.Tyr667Asp
XM_011516012.2:c.1936T>G XP_011514314.1:p.Tyr646Asp
XM_011516013.2:c.1930T>G XP_011514315.1:p.Tyr644Asp
XM_011516014.2:c.1900T>G XP_011514316.1:p.Tyr634Asp
XM_011516017.2:c.1528T>G XP_011514319.1:p.Tyr510Asp
XM_011516018.2:c.1501T>G XP_011514320.1:p.Tyr501Asp
XM_017011951.2:c.2002T>G XP_016867440.1:p.Tyr668Asp
NM_001127231.3:c.1909T>G NP_001120703.1:p.Tyr637Asp
NM_015570.4:c.1981T>G MANE Select NP_056385.1:p.Tyr661Asp