Canonical Allele Identifier: CA367669833
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777155A>C , CM000669.2:g.70777155A>C GRCh38
NC_000007.13:g.70242141A>C , CM000669.1:g.70242141A>C GRCh37
NC_000007.12:g.69880077A>C NCBI36
NG_034133.1:g.1183237A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.53A>C ENSP00000514784.1:p.His18Pro
ENST00000342771.10:c.1985A>C MANE Select ENSP00000344087.4:p.His662Pro
ENST00000439256.2:c.83A>C ENSP00000407058.2:p.His28Pro
ENST00000443672.2:c.320A>C ENSP00000393548.2:p.His107Pro
ENST00000449547.6:c.78A>C
ENST00000464768.2:n.653A>C
ENST00000644359.1:c.566A>C ENSP00000494561.1:p.His189Pro
ENST00000644506.1:c.611A>C ENSP00000496672.1:p.His204Pro
ENST00000644939.1:c.1982A>C ENSP00000496726.1:p.His661Pro
ENST00000646136.1:n.296A>C
ENST00000647140.1:c.850A>C
ENST00000342771.8:c.1985A>C ENSP00000344087.4:p.His662Pro
ENST00000406775.6:c.1913A>C ENSP00000385263.2:p.His638Pro
ENST00000439256.1:c.83A>C
ENST00000464768.1:n.651A>C
ENST00000465899.1:n.482A>C
ENST00000498384.5:n.353A>C
ENST00000611706.4:c.1241A>C ENSP00000478134.1:p.His414Pro
ENST00000615871.4:c.1169A>C ENSP00000479325.1:p.His390Pro
NM_001127231.2:c.1913A>C NP_001120703.1:p.His638Pro
NM_015570.3:c.1985A>C NP_056385.1:p.His662Pro
XM_005250257.1:c.632A>C XP_005250314.1:p.His211Pro
XM_011516010.1:c.2006A>C XP_011514312.1:p.His669Pro
XM_011516011.1:c.2003A>C XP_011514313.1:p.His668Pro
XM_011516012.1:c.1940A>C XP_011514314.1:p.His647Pro
XM_011516013.1:c.1934A>C XP_011514315.1:p.His645Pro
XM_011516014.1:c.1904A>C XP_011514316.1:p.His635Pro
XM_011516015.1:c.1742A>C XP_011514317.1:p.His581Pro
XM_011516016.1:c.1715A>C XP_011514318.1:p.His572Pro
XM_011516017.1:c.1532A>C XP_011514319.1:p.His511Pro
XM_011516018.1:c.1505A>C XP_011514320.1:p.His502Pro
XM_005250257.2:c.632A>C XP_005250314.1:p.His211Pro
XM_011516010.2:c.2006A>C XP_011514312.1:p.His669Pro
XM_011516011.2:c.2003A>C XP_011514313.1:p.His668Pro
XM_011516012.2:c.1940A>C XP_011514314.1:p.His647Pro
XM_011516013.2:c.1934A>C XP_011514315.1:p.His645Pro
XM_011516014.2:c.1904A>C XP_011514316.1:p.His635Pro
XM_011516017.2:c.1532A>C XP_011514319.1:p.His511Pro
XM_011516018.2:c.1505A>C XP_011514320.1:p.His502Pro
XM_017011951.2:c.2006A>C XP_016867440.1:p.His669Pro
NM_001127231.3:c.1913A>C NP_001120703.1:p.His638Pro
NM_015570.4:c.1985A>C MANE Select NP_056385.1:p.His662Pro