Canonical Allele Identifier: CA160015182

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70789825G>A , CM000669.2:g.70789825G>A	GRCh38
NC_000007.13:g.70254811G>A , CM000669.1:g.70254811G>A	GRCh37
NC_000007.12:g.69892747G>A	NCBI36
NG_034133.1:g.1195907G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015570.4:c.2609G>A MANE Select	NP_056385.1:p.Arg870His
ENST00000342771.10:c.2609G>A MANE Select	ENSP00000344087.4:p.Arg870His
NM_001127231.2:c.2537G>A	NP_001120703.1:p.Arg846His
NM_001127231.3:c.2537G>A	NP_001120703.1:p.Arg846His
NM_015570.3:c.2609G>A	NP_056385.1:p.Arg870His
ENST00000342771.8:c.2609G>A	ENSP00000344087.4:p.Arg870His
ENST00000406775.6:c.2537G>A	ENSP00000385263.2:p.Arg846His
ENST00000418686.1:c.449G>A	ENSP00000392333.1:p.Arg150His
ENST00000449547.5:c.406G>A
ENST00000449547.6:c.531G>A
ENST00000611706.4:c.1865G>A	ENSP00000478134.1:p.Arg622His
ENST00000615871.4:c.1793G>A	ENSP00000479325.1:p.Arg598His
ENST00000644359.1:c.1190G>A	ENSP00000494561.1:p.Arg397His
ENST00000644506.1:c.1235G>A	ENSP00000496672.1:p.Arg412His
ENST00000644939.1:c.2606G>A	ENSP00000496726.1:p.Arg869His
ENST00000646193.1:n.589G>A
ENST00000647140.1:c.1474G>A
ENST00000700075.1:c.535G>A	ENSP00000514784.1:n.535G>A
XM_005250257.1:c.1256G>A	XP_005250314.1:p.Arg419His
XM_005250257.2:c.1256G>A	XP_005250314.1:p.Arg419His
XM_011516010.1:c.2630G>A	XP_011514312.1:p.Arg877His
XM_011516010.2:c.2630G>A	XP_011514312.1:p.Arg877His
XM_011516011.1:c.2627G>A	XP_011514313.1:p.Arg876His
XM_011516011.2:c.2627G>A	XP_011514313.1:p.Arg876His
XM_011516012.1:c.2564G>A	XP_011514314.1:p.Arg855His
XM_011516012.2:c.2564G>A	XP_011514314.1:p.Arg855His
XM_011516013.1:c.2558G>A	XP_011514315.1:p.Arg853His
XM_011516013.2:c.2558G>A	XP_011514315.1:p.Arg853His
XM_011516014.1:c.2528G>A	XP_011514316.1:p.Arg843His
XM_011516014.2:c.2528G>A	XP_011514316.1:p.Arg843His
XM_011516015.1:c.2366G>A	XP_011514317.1:p.Arg789His
XM_011516016.1:c.2339G>A	XP_011514318.1:p.Arg780His
XM_011516017.1:c.2156G>A	XP_011514319.1:p.Arg719His
XM_011516017.2:c.2156G>A	XP_011514319.1:p.Arg719His
XM_011516018.1:c.2129G>A	XP_011514320.1:p.Arg710His
XM_011516018.2:c.2129G>A	XP_011514320.1:p.Arg710His
XM_017011951.2:c.*104G>A	XP_016867440.1:n.*104G>A