Canonical Allele Identifier: CA367669859

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242150A>T (hg19) ; chr7:g.70777164A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777164A>T , CM000669.2:g.70777164A>T	GRCh38
NC_000007.13:g.70242150A>T , CM000669.1:g.70242150A>T	GRCh37
NC_000007.12:g.69880086A>T	NCBI36
NG_034133.1:g.1183246A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.62A>T	ENSP00000514784.1:p.Gln21Leu
ENST00000342771.10:c.1994A>T MANE Select	ENSP00000344087.4:p.Gln665Leu
ENST00000439256.2:c.92A>T	ENSP00000407058.2:p.Gln31Leu
ENST00000443672.2:c.329A>T	ENSP00000393548.2:p.Gln110Leu
ENST00000449547.6:c.87A>T
ENST00000464768.2:n.662A>T
ENST00000644359.1:c.575A>T	ENSP00000494561.1:p.Gln192Leu
ENST00000644506.1:c.620A>T	ENSP00000496672.1:p.Gln207Leu
ENST00000644939.1:c.1991A>T	ENSP00000496726.1:p.Gln664Leu
ENST00000646136.1:n.305A>T
ENST00000647140.1:c.859A>T
ENST00000342771.8:c.1994A>T	ENSP00000344087.4:p.Gln665Leu
ENST00000406775.6:c.1922A>T	ENSP00000385263.2:p.Gln641Leu
ENST00000439256.1:c.92A>T
ENST00000464768.1:n.660A>T
ENST00000465899.1:n.491A>T
ENST00000498384.5:n.362A>T
ENST00000611706.4:c.1250A>T	ENSP00000478134.1:p.Gln417Leu
ENST00000615871.4:c.1178A>T	ENSP00000479325.1:p.Gln393Leu
NM_001127231.2:c.1922A>T	NP_001120703.1:p.Gln641Leu
NM_015570.3:c.1994A>T	NP_056385.1:p.Gln665Leu
XM_005250257.1:c.641A>T	XP_005250314.1:p.Gln214Leu
XM_011516010.1:c.2015A>T	XP_011514312.1:p.Gln672Leu
XM_011516011.1:c.2012A>T	XP_011514313.1:p.Gln671Leu
XM_011516012.1:c.1949A>T	XP_011514314.1:p.Gln650Leu
XM_011516013.1:c.1943A>T	XP_011514315.1:p.Gln648Leu
XM_011516014.1:c.1913A>T	XP_011514316.1:p.Gln638Leu
XM_011516015.1:c.1751A>T	XP_011514317.1:p.Gln584Leu
XM_011516016.1:c.1724A>T	XP_011514318.1:p.Gln575Leu
XM_011516017.1:c.1541A>T	XP_011514319.1:p.Gln514Leu
XM_011516018.1:c.1514A>T	XP_011514320.1:p.Gln505Leu
XM_005250257.2:c.641A>T	XP_005250314.1:p.Gln214Leu
XM_011516010.2:c.2015A>T	XP_011514312.1:p.Gln672Leu
XM_011516011.2:c.2012A>T	XP_011514313.1:p.Gln671Leu
XM_011516012.2:c.1949A>T	XP_011514314.1:p.Gln650Leu
XM_011516013.2:c.1943A>T	XP_011514315.1:p.Gln648Leu
XM_011516014.2:c.1913A>T	XP_011514316.1:p.Gln638Leu
XM_011516017.2:c.1541A>T	XP_011514319.1:p.Gln514Leu
XM_011516018.2:c.1514A>T	XP_011514320.1:p.Gln505Leu
XM_017011951.2:c.2015A>T	XP_016867440.1:p.Gln672Leu
NM_001127231.3:c.1922A>T	NP_001120703.1:p.Gln641Leu
NM_015570.4:c.1994A>T MANE Select	NP_056385.1:p.Gln665Leu