Canonical Allele Identifier: CA455801979

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70231131T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766145T>A , CM000669.2:g.70766145T>A	GRCh38
NC_000007.13:g.70231131T>A , CM000669.1:g.70231131T>A	GRCh37
NC_000007.12:g.69869067T>A	NCBI36
NG_034133.1:g.1172227T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.1500T>A MANE Select	ENSP00000344087.4:p.Thr500=
ENST00000443672.2:c.-166T>A	ENSP00000393548.2:n.-166T>A
ENST00000644359.1:c.126T>A	ENSP00000494561.1:p.Thr42=
ENST00000644506.1:c.126T>A	ENSP00000496672.1:p.Thr42=
ENST00000644939.1:c.1497T>A	ENSP00000496726.1:p.Thr499=
ENST00000647140.1:c.344T>A
ENST00000656200.1:c.126T>A	ENSP00000499508.1:p.Thr42=
ENST00000342771.8:c.1500T>A	ENSP00000344087.4:p.Thr500=
ENST00000406775.6:c.1500T>A	ENSP00000385263.2:p.Thr500=
ENST00000443672.1:c.125T>A
ENST00000481994.1:n.107T>A
ENST00000611706.4:c.756T>A	ENSP00000478134.1:p.Thr252=
ENST00000615871.4:c.756T>A	ENSP00000479325.1:p.Thr252=
NM_001127231.2:c.1500T>A	NP_001120703.1:p.Thr500=
NM_015570.3:c.1500T>A	NP_056385.1:p.Thr500=
XM_005250257.1:c.126T>A	XP_005250314.1:p.Thr42=
XM_011516010.1:c.1500T>A	XP_011514312.1:p.Thr500=
XM_011516011.1:c.1497T>A	XP_011514313.1:p.Thr499=
XM_011516012.1:c.1500T>A	XP_011514314.1:p.Thr500=
XM_011516013.1:c.1500T>A	XP_011514315.1:p.Thr500=
XM_011516014.1:c.1500T>A	XP_011514316.1:p.Thr500=
XM_011516015.1:c.1500T>A	XP_011514317.1:p.Thr500=
XM_011516016.1:c.1209T>A	XP_011514318.1:p.Thr403=
XM_011516017.1:c.1026T>A	XP_011514319.1:p.Thr342=
XM_011516018.1:c.999T>A	XP_011514320.1:p.Thr333=
XM_005250257.2:c.126T>A	XP_005250314.1:p.Thr42=
XM_011516010.2:c.1500T>A	XP_011514312.1:p.Thr500=
XM_011516011.2:c.1497T>A	XP_011514313.1:p.Thr499=
XM_011516012.2:c.1500T>A	XP_011514314.1:p.Thr500=
XM_011516013.2:c.1500T>A	XP_011514315.1:p.Thr500=
XM_011516014.2:c.1500T>A	XP_011514316.1:p.Thr500=
XM_011516017.2:c.1026T>A	XP_011514319.1:p.Thr342=
XM_011516018.2:c.999T>A	XP_011514320.1:p.Thr333=
XM_017011951.2:c.1500T>A	XP_016867440.1:p.Thr500=
NM_001127231.3:c.1500T>A	NP_001120703.1:p.Thr500=
NM_015570.4:c.1500T>A MANE Select	NP_056385.1:p.Thr500=