Canonical Allele Identifier: CA4280749

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70768061G>A , CM000669.2:g.70768061G>A	GRCh38
NC_000007.13:g.70233047G>A , CM000669.1:g.70233047G>A	GRCh37
NC_000007.12:g.69870983G>A	NCBI36
NG_034133.1:g.1174143G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015570.4:c.1727G>A MANE Select	NP_056385.1:p.Arg576Gln
ENST00000342771.10:c.1727G>A MANE Select	ENSP00000344087.4:p.Arg576Gln
NM_001127231.2:c.1727G>A	NP_001120703.1:p.Arg576Gln
NM_001127231.3:c.1727G>A	NP_001120703.1:p.Arg576Gln
NM_015570.3:c.1727G>A	NP_056385.1:p.Arg576Gln
ENST00000342771.8:c.1727G>A	ENSP00000344087.4:p.Arg576Gln
ENST00000406775.6:c.1727G>A	ENSP00000385263.2:p.Arg576Gln
ENST00000443672.1:c.314+1727G>A
ENST00000443672.2:c.62G>A	ENSP00000393548.2:p.Arg21Gln
ENST00000481994.1:n.296+1727G>A
ENST00000483297.1:n.38G>A
ENST00000483297.2:n.49G>A
ENST00000611706.4:c.983G>A	ENSP00000478134.1:p.Arg328Gln
ENST00000615871.4:c.983G>A	ENSP00000479325.1:p.Arg328Gln
ENST00000644359.1:c.315+1727G>A	ENSP00000494561.1:n.315+1727G>A
ENST00000644506.1:c.353G>A	ENSP00000496672.1:p.Arg118Gln
ENST00000644939.1:c.1724G>A	ENSP00000496726.1:p.Arg575Gln
ENST00000644949.1:c.160G>A
ENST00000647140.1:c.592G>A
ENST00000656200.1:c.353G>A	ENSP00000499508.1:p.Arg118Gln
XM_005250257.1:c.374G>A	XP_005250314.1:p.Arg125Gln
XM_005250257.2:c.374G>A	XP_005250314.1:p.Arg125Gln
XM_011516010.1:c.1748G>A	XP_011514312.1:p.Arg583Gln
XM_011516010.2:c.1748G>A	XP_011514312.1:p.Arg583Gln
XM_011516011.1:c.1745G>A	XP_011514313.1:p.Arg582Gln
XM_011516011.2:c.1745G>A	XP_011514313.1:p.Arg582Gln
XM_011516012.1:c.1689+1727G>A	XP_011514314.1:n.1689+1727G>A
XM_011516012.2:c.1689+1727G>A	XP_011514314.1:n.1689+1727G>A
XM_011516013.1:c.1748G>A	XP_011514315.1:p.Arg583Gln
XM_011516013.2:c.1748G>A	XP_011514315.1:p.Arg583Gln
XM_011516014.1:c.1748G>A	XP_011514316.1:p.Arg583Gln
XM_011516014.2:c.1748G>A	XP_011514316.1:p.Arg583Gln
XM_011516015.1:c.1689+1727G>A	XP_011514317.1:n.1689+1727G>A
XM_011516016.1:c.1457G>A	XP_011514318.1:p.Arg486Gln
XM_011516017.1:c.1274G>A	XP_011514319.1:p.Arg425Gln
XM_011516017.2:c.1274G>A	XP_011514319.1:p.Arg425Gln
XM_011516018.1:c.1247G>A	XP_011514320.1:p.Arg416Gln
XM_011516018.2:c.1247G>A	XP_011514320.1:p.Arg416Gln
XM_017011951.2:c.1748G>A	XP_016867440.1:p.Arg583Gln