Canonical Allele Identifier: CA367669823
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.49T>A ENSP00000514784.1:p.Tyr17Asn
ENST00000342771.10:c.1981T>A MANE Select ENSP00000344087.4:p.Tyr661Asn
ENST00000439256.2:c.79T>A ENSP00000407058.2:p.Tyr27Asn
ENST00000443672.2:c.316T>A ENSP00000393548.2:p.Tyr106Asn
ENST00000449547.6:c.74T>A
ENST00000464768.2:n.649T>A
ENST00000644359.1:c.562T>A ENSP00000494561.1:p.Tyr188Asn
ENST00000644506.1:c.607T>A ENSP00000496672.1:p.Tyr203Asn
ENST00000644939.1:c.1978T>A ENSP00000496726.1:p.Tyr660Asn
ENST00000646136.1:n.292T>A
ENST00000647140.1:c.846T>A
ENST00000342771.8:c.1981T>A ENSP00000344087.4:p.Tyr661Asn
ENST00000406775.6:c.1909T>A ENSP00000385263.2:p.Tyr637Asn
ENST00000439256.1:c.79T>A
ENST00000464768.1:n.647T>A
ENST00000465899.1:n.478T>A
ENST00000498384.5:n.349T>A
ENST00000611706.4:c.1237T>A ENSP00000478134.1:p.Tyr413Asn
ENST00000615871.4:c.1165T>A ENSP00000479325.1:p.Tyr389Asn
NM_001127231.2:c.1909T>A NP_001120703.1:p.Tyr637Asn
NM_015570.3:c.1981T>A NP_056385.1:p.Tyr661Asn
XM_005250257.1:c.628T>A XP_005250314.1:p.Tyr210Asn
XM_011516010.1:c.2002T>A XP_011514312.1:p.Tyr668Asn
XM_011516011.1:c.1999T>A XP_011514313.1:p.Tyr667Asn
XM_011516012.1:c.1936T>A XP_011514314.1:p.Tyr646Asn
XM_011516013.1:c.1930T>A XP_011514315.1:p.Tyr644Asn
XM_011516014.1:c.1900T>A XP_011514316.1:p.Tyr634Asn
XM_011516015.1:c.1738T>A XP_011514317.1:p.Tyr580Asn
XM_011516016.1:c.1711T>A XP_011514318.1:p.Tyr571Asn
XM_011516017.1:c.1528T>A XP_011514319.1:p.Tyr510Asn
XM_011516018.1:c.1501T>A XP_011514320.1:p.Tyr501Asn
XM_005250257.2:c.628T>A XP_005250314.1:p.Tyr210Asn
XM_011516010.2:c.2002T>A XP_011514312.1:p.Tyr668Asn
XM_011516011.2:c.1999T>A XP_011514313.1:p.Tyr667Asn
XM_011516012.2:c.1936T>A XP_011514314.1:p.Tyr646Asn
XM_011516013.2:c.1930T>A XP_011514315.1:p.Tyr644Asn
XM_011516014.2:c.1900T>A XP_011514316.1:p.Tyr634Asn
XM_011516017.2:c.1528T>A XP_011514319.1:p.Tyr510Asn
XM_011516018.2:c.1501T>A XP_011514320.1:p.Tyr501Asn
XM_017011951.2:c.2002T>A XP_016867440.1:p.Tyr668Asn
NM_001127231.3:c.1909T>A NP_001120703.1:p.Tyr637Asn
NM_015570.4:c.1981T>A MANE Select NP_056385.1:p.Tyr661Asn