Canonical Allele Identifier: CA367669842

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242144A>T (hg19) ; chr7:g.70777158A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777158A>T , CM000669.2:g.70777158A>T	GRCh38
NC_000007.13:g.70242144A>T , CM000669.1:g.70242144A>T	GRCh37
NC_000007.12:g.69880080A>T	NCBI36
NG_034133.1:g.1183240A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.56A>T	ENSP00000514784.1:p.His19Leu
ENST00000342771.10:c.1988A>T MANE Select	ENSP00000344087.4:p.His663Leu
ENST00000439256.2:c.86A>T	ENSP00000407058.2:p.His29Leu
ENST00000443672.2:c.323A>T	ENSP00000393548.2:p.His108Leu
ENST00000449547.6:c.81A>T
ENST00000464768.2:n.656A>T
ENST00000644359.1:c.569A>T	ENSP00000494561.1:p.His190Leu
ENST00000644506.1:c.614A>T	ENSP00000496672.1:p.His205Leu
ENST00000644939.1:c.1985A>T	ENSP00000496726.1:p.His662Leu
ENST00000646136.1:n.299A>T
ENST00000647140.1:c.853A>T
ENST00000342771.8:c.1988A>T	ENSP00000344087.4:p.His663Leu
ENST00000406775.6:c.1916A>T	ENSP00000385263.2:p.His639Leu
ENST00000439256.1:c.86A>T
ENST00000464768.1:n.654A>T
ENST00000465899.1:n.485A>T
ENST00000498384.5:n.356A>T
ENST00000611706.4:c.1244A>T	ENSP00000478134.1:p.His415Leu
ENST00000615871.4:c.1172A>T	ENSP00000479325.1:p.His391Leu
NM_001127231.2:c.1916A>T	NP_001120703.1:p.His639Leu
NM_015570.3:c.1988A>T	NP_056385.1:p.His663Leu
XM_005250257.1:c.635A>T	XP_005250314.1:p.His212Leu
XM_011516010.1:c.2009A>T	XP_011514312.1:p.His670Leu
XM_011516011.1:c.2006A>T	XP_011514313.1:p.His669Leu
XM_011516012.1:c.1943A>T	XP_011514314.1:p.His648Leu
XM_011516013.1:c.1937A>T	XP_011514315.1:p.His646Leu
XM_011516014.1:c.1907A>T	XP_011514316.1:p.His636Leu
XM_011516015.1:c.1745A>T	XP_011514317.1:p.His582Leu
XM_011516016.1:c.1718A>T	XP_011514318.1:p.His573Leu
XM_011516017.1:c.1535A>T	XP_011514319.1:p.His512Leu
XM_011516018.1:c.1508A>T	XP_011514320.1:p.His503Leu
XM_005250257.2:c.635A>T	XP_005250314.1:p.His212Leu
XM_011516010.2:c.2009A>T	XP_011514312.1:p.His670Leu
XM_011516011.2:c.2006A>T	XP_011514313.1:p.His669Leu
XM_011516012.2:c.1943A>T	XP_011514314.1:p.His648Leu
XM_011516013.2:c.1937A>T	XP_011514315.1:p.His646Leu
XM_011516014.2:c.1907A>T	XP_011514316.1:p.His636Leu
XM_011516017.2:c.1535A>T	XP_011514319.1:p.His512Leu
XM_011516018.2:c.1508A>T	XP_011514320.1:p.His503Leu
XM_017011951.2:c.2009A>T	XP_016867440.1:p.His670Leu
NM_001127231.3:c.1916A>T	NP_001120703.1:p.His639Leu
NM_015570.4:c.1988A>T MANE Select	NP_056385.1:p.His663Leu