Canonical Allele Identifier: CA367669841
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777158A>C , CM000669.2:g.70777158A>C GRCh38
NC_000007.13:g.70242144A>C , CM000669.1:g.70242144A>C GRCh37
NC_000007.12:g.69880080A>C NCBI36
NG_034133.1:g.1183240A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.56A>C ENSP00000514784.1:p.His19Pro
ENST00000342771.10:c.1988A>C MANE Select ENSP00000344087.4:p.His663Pro
ENST00000439256.2:c.86A>C ENSP00000407058.2:p.His29Pro
ENST00000443672.2:c.323A>C ENSP00000393548.2:p.His108Pro
ENST00000449547.6:c.81A>C
ENST00000464768.2:n.656A>C
ENST00000644359.1:c.569A>C ENSP00000494561.1:p.His190Pro
ENST00000644506.1:c.614A>C ENSP00000496672.1:p.His205Pro
ENST00000644939.1:c.1985A>C ENSP00000496726.1:p.His662Pro
ENST00000646136.1:n.299A>C
ENST00000647140.1:c.853A>C
ENST00000342771.8:c.1988A>C ENSP00000344087.4:p.His663Pro
ENST00000406775.6:c.1916A>C ENSP00000385263.2:p.His639Pro
ENST00000439256.1:c.86A>C
ENST00000464768.1:n.654A>C
ENST00000465899.1:n.485A>C
ENST00000498384.5:n.356A>C
ENST00000611706.4:c.1244A>C ENSP00000478134.1:p.His415Pro
ENST00000615871.4:c.1172A>C ENSP00000479325.1:p.His391Pro
NM_001127231.2:c.1916A>C NP_001120703.1:p.His639Pro
NM_015570.3:c.1988A>C NP_056385.1:p.His663Pro
XM_005250257.1:c.635A>C XP_005250314.1:p.His212Pro
XM_011516010.1:c.2009A>C XP_011514312.1:p.His670Pro
XM_011516011.1:c.2006A>C XP_011514313.1:p.His669Pro
XM_011516012.1:c.1943A>C XP_011514314.1:p.His648Pro
XM_011516013.1:c.1937A>C XP_011514315.1:p.His646Pro
XM_011516014.1:c.1907A>C XP_011514316.1:p.His636Pro
XM_011516015.1:c.1745A>C XP_011514317.1:p.His582Pro
XM_011516016.1:c.1718A>C XP_011514318.1:p.His573Pro
XM_011516017.1:c.1535A>C XP_011514319.1:p.His512Pro
XM_011516018.1:c.1508A>C XP_011514320.1:p.His503Pro
XM_005250257.2:c.635A>C XP_005250314.1:p.His212Pro
XM_011516010.2:c.2009A>C XP_011514312.1:p.His670Pro
XM_011516011.2:c.2006A>C XP_011514313.1:p.His669Pro
XM_011516012.2:c.1943A>C XP_011514314.1:p.His648Pro
XM_011516013.2:c.1937A>C XP_011514315.1:p.His646Pro
XM_011516014.2:c.1907A>C XP_011514316.1:p.His636Pro
XM_011516017.2:c.1535A>C XP_011514319.1:p.His512Pro
XM_011516018.2:c.1508A>C XP_011514320.1:p.His503Pro
XM_017011951.2:c.2009A>C XP_016867440.1:p.His670Pro
NM_001127231.3:c.1916A>C NP_001120703.1:p.His639Pro
NM_015570.4:c.1988A>C MANE Select NP_056385.1:p.His663Pro