Canonical Allele Identifier: CA367703459

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69899353G>A , CM000669.2:g.69899353G>A	GRCh38
NC_000007.13:g.69364339G>A , CM000669.1:g.69364339G>A	GRCh37
NC_000007.12:g.69002275G>A	NCBI36
NG_034133.1:g.305435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.377G>A MANE Select	ENSP00000344087.4:p.Arg126Gln
ENST00000403018.3:c.377G>A	ENSP00000385572.2:p.Arg126Gln
ENST00000476695.2:n.232G>A
ENST00000643587.1:c.-125G>A	ENSP00000494680.1:n.-125G>A
ENST00000643936.1:c.156G>A
ENST00000644939.1:c.377G>A	ENSP00000496726.1:p.Arg126Gln
ENST00000656998.1:c.68G>A	ENSP00000499769.1:p.Arg23Gln
ENST00000342771.8:c.377G>A	ENSP00000344087.4:p.Arg126Gln
ENST00000403018.2:c.377G>A	ENSP00000385572.2:p.Arg126Gln
ENST00000406775.6:c.377G>A	ENSP00000385263.2:p.Arg126Gln
ENST00000476695.1:n.226G>A
NM_001127231.2:c.377G>A	NP_001120703.1:p.Arg126Gln
NM_001127232.2:c.377G>A	NP_001120704.1:p.Arg126Gln
NM_015570.3:c.377G>A	NP_056385.1:p.Arg126Gln
XM_011516010.1:c.377G>A	XP_011514312.1:p.Arg126Gln
XM_011516011.1:c.377G>A	XP_011514313.1:p.Arg126Gln
XM_011516012.1:c.377G>A	XP_011514314.1:p.Arg126Gln
XM_011516013.1:c.377G>A	XP_011514315.1:p.Arg126Gln
XM_011516014.1:c.377G>A	XP_011514316.1:p.Arg126Gln
XM_011516015.1:c.377G>A	XP_011514317.1:p.Arg126Gln
XM_011516016.1:c.86G>A	XP_011514318.1:p.Arg29Gln
XM_011516018.1:c.-125G>A	XP_011514320.1:n.-125G>A
XM_011516010.2:c.377G>A	XP_011514312.1:p.Arg126Gln
XM_011516011.2:c.377G>A	XP_011514313.1:p.Arg126Gln
XM_011516012.2:c.377G>A	XP_011514314.1:p.Arg126Gln
XM_011516013.2:c.377G>A	XP_011514315.1:p.Arg126Gln
XM_011516014.2:c.377G>A	XP_011514316.1:p.Arg126Gln
XM_011516018.2:c.-125G>A	XP_011514320.1:n.-125G>A
XM_017011951.2:c.377G>A	XP_016867440.1:p.Arg126Gln
NM_001127231.3:c.377G>A	NP_001120703.1:p.Arg126Gln
NM_001127232.3:c.377G>A	NP_001120704.1:p.Arg126Gln
NM_015570.4:c.377G>A MANE Select	NP_056385.1:p.Arg126Gln