Canonical Allele Identifier: CA367669861

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242151G>T (hg19) ; chr7:g.70777165G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777165G>T , CM000669.2:g.70777165G>T	GRCh38
NC_000007.13:g.70242151G>T , CM000669.1:g.70242151G>T	GRCh37
NC_000007.12:g.69880087G>T	NCBI36
NG_034133.1:g.1183247G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.63G>T	ENSP00000514784.1:p.Gln21His
ENST00000342771.10:c.1995G>T MANE Select	ENSP00000344087.4:p.Gln665His
ENST00000439256.2:c.93G>T	ENSP00000407058.2:p.Gln31His
ENST00000443672.2:c.330G>T	ENSP00000393548.2:p.Gln110His
ENST00000449547.6:c.88G>T
ENST00000464768.2:n.663G>T
ENST00000644359.1:c.576G>T	ENSP00000494561.1:p.Gln192His
ENST00000644506.1:c.621G>T	ENSP00000496672.1:p.Gln207His
ENST00000644939.1:c.1992G>T	ENSP00000496726.1:p.Gln664His
ENST00000646136.1:n.306G>T
ENST00000647140.1:c.860G>T
ENST00000342771.8:c.1995G>T	ENSP00000344087.4:p.Gln665His
ENST00000406775.6:c.1923G>T	ENSP00000385263.2:p.Gln641His
ENST00000439256.1:c.93G>T
ENST00000464768.1:n.661G>T
ENST00000465899.1:n.492G>T
ENST00000498384.5:n.363G>T
ENST00000611706.4:c.1251G>T	ENSP00000478134.1:p.Gln417His
ENST00000615871.4:c.1179G>T	ENSP00000479325.1:p.Gln393His
NM_001127231.2:c.1923G>T	NP_001120703.1:p.Gln641His
NM_015570.3:c.1995G>T	NP_056385.1:p.Gln665His
XM_005250257.1:c.642G>T	XP_005250314.1:p.Gln214His
XM_011516010.1:c.2016G>T	XP_011514312.1:p.Gln672His
XM_011516011.1:c.2013G>T	XP_011514313.1:p.Gln671His
XM_011516012.1:c.1950G>T	XP_011514314.1:p.Gln650His
XM_011516013.1:c.1944G>T	XP_011514315.1:p.Gln648His
XM_011516014.1:c.1914G>T	XP_011514316.1:p.Gln638His
XM_011516015.1:c.1752G>T	XP_011514317.1:p.Gln584His
XM_011516016.1:c.1725G>T	XP_011514318.1:p.Gln575His
XM_011516017.1:c.1542G>T	XP_011514319.1:p.Gln514His
XM_011516018.1:c.1515G>T	XP_011514320.1:p.Gln505His
XM_005250257.2:c.642G>T	XP_005250314.1:p.Gln214His
XM_011516010.2:c.2016G>T	XP_011514312.1:p.Gln672His
XM_011516011.2:c.2013G>T	XP_011514313.1:p.Gln671His
XM_011516012.2:c.1950G>T	XP_011514314.1:p.Gln650His
XM_011516013.2:c.1944G>T	XP_011514315.1:p.Gln648His
XM_011516014.2:c.1914G>T	XP_011514316.1:p.Gln638His
XM_011516017.2:c.1542G>T	XP_011514319.1:p.Gln514His
XM_011516018.2:c.1515G>T	XP_011514320.1:p.Gln505His
XM_017011951.2:c.2016G>T	XP_016867440.1:p.Gln672His
NM_001127231.3:c.1923G>T	NP_001120703.1:p.Gln641His
NM_015570.4:c.1995G>T MANE Select	NP_056385.1:p.Gln665His