Canonical Allele Identifier: CA4280607

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70764784A>G , CM000669.2:g.70764784A>G	GRCh38
NC_000007.13:g.70229770A>G , CM000669.1:g.70229770A>G	GRCh37
NC_000007.12:g.69867706A>G	NCBI36
NG_034133.1:g.1170866A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1247A>G MANE Select	ENSP00000344087.4:p.Gln416Arg
ENST00000443672.2:c.-197-1330A>G	ENSP00000393548.2:n.-197-1330A>G
ENST00000644359.1:c.-128A>G	ENSP00000494561.1:n.-128A>G
ENST00000644506.1:c.-128A>G	ENSP00000496672.1:n.-128A>G
ENST00000644939.1:c.1244A>G	ENSP00000496726.1:p.Gln415Arg
ENST00000647140.1:c.91A>G
ENST00000656200.1:c.-128A>G	ENSP00000499508.1:n.-128A>G
ENST00000342771.8:c.1247A>G	ENSP00000344087.4:p.Gln416Arg
ENST00000406775.6:c.1247A>G	ENSP00000385263.2:p.Gln416Arg
ENST00000416482.1:c.585A>G
ENST00000611706.4:c.503A>G	ENSP00000478134.1:p.Gln168Arg
ENST00000615871.4:c.503A>G	ENSP00000479325.1:p.Gln168Arg
NM_001127231.2:c.1247A>G	NP_001120703.1:p.Gln416Arg
NM_015570.3:c.1247A>G	NP_056385.1:p.Gln416Arg
XM_005250257.1:c.-128A>G	XP_005250314.1:n.-128A>G
XM_011516010.1:c.1247A>G	XP_011514312.1:p.Gln416Arg
XM_011516011.1:c.1244A>G	XP_011514313.1:p.Gln415Arg
XM_011516012.1:c.1247A>G	XP_011514314.1:p.Gln416Arg
XM_011516013.1:c.1247A>G	XP_011514315.1:p.Gln416Arg
XM_011516014.1:c.1247A>G	XP_011514316.1:p.Gln416Arg
XM_011516015.1:c.1247A>G	XP_011514317.1:p.Gln416Arg
XM_011516016.1:c.956A>G	XP_011514318.1:p.Gln319Arg
XM_011516017.1:c.773A>G	XP_011514319.1:p.Gln258Arg
XM_011516018.1:c.746A>G	XP_011514320.1:p.Gln249Arg
XM_005250257.2:c.-128A>G	XP_005250314.1:n.-128A>G
XM_011516010.2:c.1247A>G	XP_011514312.1:p.Gln416Arg
XM_011516011.2:c.1244A>G	XP_011514313.1:p.Gln415Arg
XM_011516012.2:c.1247A>G	XP_011514314.1:p.Gln416Arg
XM_011516013.2:c.1247A>G	XP_011514315.1:p.Gln416Arg
XM_011516014.2:c.1247A>G	XP_011514316.1:p.Gln416Arg
XM_011516017.2:c.773A>G	XP_011514319.1:p.Gln258Arg
XM_011516018.2:c.746A>G	XP_011514320.1:p.Gln249Arg
XM_017011951.2:c.1247A>G	XP_016867440.1:p.Gln416Arg
NM_001127231.3:c.1247A>G	NP_001120703.1:p.Gln416Arg
NM_015570.4:c.1247A>G MANE Select	NP_056385.1:p.Gln416Arg