Canonical Allele Identifier: CA367669835

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242141A>T (hg19) ; chr7:g.70777155A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777155A>T , CM000669.2:g.70777155A>T	GRCh38
NC_000007.13:g.70242141A>T , CM000669.1:g.70242141A>T	GRCh37
NC_000007.12:g.69880077A>T	NCBI36
NG_034133.1:g.1183237A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.53A>T	ENSP00000514784.1:p.His18Leu
ENST00000342771.10:c.1985A>T MANE Select	ENSP00000344087.4:p.His662Leu
ENST00000439256.2:c.83A>T	ENSP00000407058.2:p.His28Leu
ENST00000443672.2:c.320A>T	ENSP00000393548.2:p.His107Leu
ENST00000449547.6:c.78A>T
ENST00000464768.2:n.653A>T
ENST00000644359.1:c.566A>T	ENSP00000494561.1:p.His189Leu
ENST00000644506.1:c.611A>T	ENSP00000496672.1:p.His204Leu
ENST00000644939.1:c.1982A>T	ENSP00000496726.1:p.His661Leu
ENST00000646136.1:n.296A>T
ENST00000647140.1:c.850A>T
ENST00000342771.8:c.1985A>T	ENSP00000344087.4:p.His662Leu
ENST00000406775.6:c.1913A>T	ENSP00000385263.2:p.His638Leu
ENST00000439256.1:c.83A>T
ENST00000464768.1:n.651A>T
ENST00000465899.1:n.482A>T
ENST00000498384.5:n.353A>T
ENST00000611706.4:c.1241A>T	ENSP00000478134.1:p.His414Leu
ENST00000615871.4:c.1169A>T	ENSP00000479325.1:p.His390Leu
NM_001127231.2:c.1913A>T	NP_001120703.1:p.His638Leu
NM_015570.3:c.1985A>T	NP_056385.1:p.His662Leu
XM_005250257.1:c.632A>T	XP_005250314.1:p.His211Leu
XM_011516010.1:c.2006A>T	XP_011514312.1:p.His669Leu
XM_011516011.1:c.2003A>T	XP_011514313.1:p.His668Leu
XM_011516012.1:c.1940A>T	XP_011514314.1:p.His647Leu
XM_011516013.1:c.1934A>T	XP_011514315.1:p.His645Leu
XM_011516014.1:c.1904A>T	XP_011514316.1:p.His635Leu
XM_011516015.1:c.1742A>T	XP_011514317.1:p.His581Leu
XM_011516016.1:c.1715A>T	XP_011514318.1:p.His572Leu
XM_011516017.1:c.1532A>T	XP_011514319.1:p.His511Leu
XM_011516018.1:c.1505A>T	XP_011514320.1:p.His502Leu
XM_005250257.2:c.632A>T	XP_005250314.1:p.His211Leu
XM_011516010.2:c.2006A>T	XP_011514312.1:p.His669Leu
XM_011516011.2:c.2003A>T	XP_011514313.1:p.His668Leu
XM_011516012.2:c.1940A>T	XP_011514314.1:p.His647Leu
XM_011516013.2:c.1934A>T	XP_011514315.1:p.His645Leu
XM_011516014.2:c.1904A>T	XP_011514316.1:p.His635Leu
XM_011516017.2:c.1532A>T	XP_011514319.1:p.His511Leu
XM_011516018.2:c.1505A>T	XP_011514320.1:p.His502Leu
XM_017011951.2:c.2006A>T	XP_016867440.1:p.His669Leu
NM_001127231.3:c.1913A>T	NP_001120703.1:p.His638Leu
NM_015570.4:c.1985A>T MANE Select	NP_056385.1:p.His662Leu