Canonical Allele Identifier: CA367669790

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242122A>T (hg19) ; chr7:g.70777136A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777136A>T , CM000669.2:g.70777136A>T	GRCh38
NC_000007.13:g.70242122A>T , CM000669.1:g.70242122A>T	GRCh37
NC_000007.12:g.69880058A>T	NCBI36
NG_034133.1:g.1183218A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.34A>T	ENSP00000514784.1:p.Ile12Phe
ENST00000342771.10:c.1966A>T MANE Select	ENSP00000344087.4:p.Ile656Phe
ENST00000439256.2:c.64A>T	ENSP00000407058.2:p.Ile22Phe
ENST00000443672.2:c.301A>T	ENSP00000393548.2:p.Ile101Phe
ENST00000449547.6:c.59A>T
ENST00000464768.2:n.634A>T
ENST00000644359.1:c.547A>T	ENSP00000494561.1:p.Ile183Phe
ENST00000644506.1:c.592A>T	ENSP00000496672.1:p.Ile198Phe
ENST00000644939.1:c.1963A>T	ENSP00000496726.1:p.Ile655Phe
ENST00000646136.1:n.277A>T
ENST00000647140.1:c.831A>T
ENST00000342771.8:c.1966A>T	ENSP00000344087.4:p.Ile656Phe
ENST00000406775.6:c.1894A>T	ENSP00000385263.2:p.Ile632Phe
ENST00000439256.1:c.64A>T
ENST00000464768.1:n.632A>T
ENST00000465899.1:n.463A>T
ENST00000498384.5:n.334A>T
ENST00000611706.4:c.1222A>T	ENSP00000478134.1:p.Ile408Phe
ENST00000615871.4:c.1150A>T	ENSP00000479325.1:p.Ile384Phe
NM_001127231.2:c.1894A>T	NP_001120703.1:p.Ile632Phe
NM_015570.3:c.1966A>T	NP_056385.1:p.Ile656Phe
XM_005250257.1:c.613A>T	XP_005250314.1:p.Ile205Phe
XM_011516010.1:c.1987A>T	XP_011514312.1:p.Ile663Phe
XM_011516011.1:c.1984A>T	XP_011514313.1:p.Ile662Phe
XM_011516012.1:c.1921A>T	XP_011514314.1:p.Ile641Phe
XM_011516013.1:c.1915A>T	XP_011514315.1:p.Ile639Phe
XM_011516014.1:c.1885A>T	XP_011514316.1:p.Ile629Phe
XM_011516015.1:c.1723A>T	XP_011514317.1:p.Ile575Phe
XM_011516016.1:c.1696A>T	XP_011514318.1:p.Ile566Phe
XM_011516017.1:c.1513A>T	XP_011514319.1:p.Ile505Phe
XM_011516018.1:c.1486A>T	XP_011514320.1:p.Ile496Phe
XM_005250257.2:c.613A>T	XP_005250314.1:p.Ile205Phe
XM_011516010.2:c.1987A>T	XP_011514312.1:p.Ile663Phe
XM_011516011.2:c.1984A>T	XP_011514313.1:p.Ile662Phe
XM_011516012.2:c.1921A>T	XP_011514314.1:p.Ile641Phe
XM_011516013.2:c.1915A>T	XP_011514315.1:p.Ile639Phe
XM_011516014.2:c.1885A>T	XP_011514316.1:p.Ile629Phe
XM_011516017.2:c.1513A>T	XP_011514319.1:p.Ile505Phe
XM_011516018.2:c.1486A>T	XP_011514320.1:p.Ile496Phe
XM_017011951.2:c.1987A>T	XP_016867440.1:p.Ile663Phe
NM_001127231.3:c.1894A>T	NP_001120703.1:p.Ile632Phe
NM_015570.4:c.1966A>T MANE Select	NP_056385.1:p.Ile656Phe