Canonical Allele Identifier: CA1716160990

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70762952G= , CM000669.2:g.70762952G=	GRCh38
NC_000007.13:g.70227938G= , CM000669.1:g.70227938G=	GRCh37
NC_000007.12:g.69865874G=	NCBI36
NG_034133.1:g.1169034G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.825G= MANE Select	ENSP00000344087.4:p.Glu275=
ENST00000443672.2:c.-197-3162G=	ENSP00000393548.2:n.-197-3162G=
ENST00000644359.1:c.-547G=	ENSP00000494561.1:n.-547G=
ENST00000644506.1:c.-547G=	ENSP00000496672.1:n.-547G=
ENST00000644939.1:c.825G=	ENSP00000496726.1:p.Glu275=
ENST00000656200.1:c.-550G=	ENSP00000499508.1:n.-550G=
ENST00000342771.8:c.825G=	ENSP00000344087.4:p.Glu275=
ENST00000406775.6:c.825G=	ENSP00000385263.2:p.Glu275=
ENST00000416482.1:c.166G=
ENST00000611706.4:c.81G=	ENSP00000478134.1:p.Glu27=
ENST00000615871.4:c.81G=	ENSP00000479325.1:p.Glu27=
NM_001127231.2:c.825G=	NP_001120703.1:p.Glu275=
NM_015570.3:c.825G=	NP_056385.1:p.Glu275=
XM_011516010.1:c.825G=	XP_011514312.1:p.Glu275=
XM_011516011.1:c.825G=	XP_011514313.1:p.Glu275=
XM_011516012.1:c.825G=	XP_011514314.1:p.Glu275=
XM_011516013.1:c.825G=	XP_011514315.1:p.Glu275=
XM_011516014.1:c.825G=	XP_011514316.1:p.Glu275=
XM_011516015.1:c.825G=	XP_011514317.1:p.Glu275=
XM_011516016.1:c.534G=	XP_011514318.1:p.Glu178=
XM_011516017.1:c.351G=	XP_011514319.1:p.Glu117=
XM_011516018.1:c.324G=	XP_011514320.1:p.Glu108=
XM_011516010.2:c.825G=	XP_011514312.1:p.Glu275=
XM_011516011.2:c.825G=	XP_011514313.1:p.Glu275=
XM_011516012.2:c.825G=	XP_011514314.1:p.Glu275=
XM_011516013.2:c.825G=	XP_011514315.1:p.Glu275=
XM_011516014.2:c.825G=	XP_011514316.1:p.Glu275=
XM_011516017.2:c.351G=	XP_011514319.1:p.Glu117=
XM_011516018.2:c.324G=	XP_011514320.1:p.Glu108=
XM_017011951.2:c.825G=	XP_016867440.1:p.Glu275=
NM_001127231.3:c.825G=	NP_001120703.1:p.Glu275=
NM_015570.4:c.825G= MANE Select	NP_056385.1:p.Glu275=