Canonical Allele Identifier: CA367669848

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242146C>T (hg19) ; chr7:g.70777160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777160C>T , CM000669.2:g.70777160C>T	GRCh38
NC_000007.13:g.70242146C>T , CM000669.1:g.70242146C>T	GRCh37
NC_000007.12:g.69880082C>T	NCBI36
NG_034133.1:g.1183242C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.58C>T	ENSP00000514784.1:p.Gln20Ter
ENST00000342771.10:c.1990C>T MANE Select	ENSP00000344087.4:p.Gln664Ter
ENST00000439256.2:c.88C>T	ENSP00000407058.2:p.Gln30Ter
ENST00000443672.2:c.325C>T	ENSP00000393548.2:p.Gln109Ter
ENST00000449547.6:c.83C>T
ENST00000464768.2:n.658C>T
ENST00000644359.1:c.571C>T	ENSP00000494561.1:p.Gln191Ter
ENST00000644506.1:c.616C>T	ENSP00000496672.1:p.Gln206Ter
ENST00000644939.1:c.1987C>T	ENSP00000496726.1:p.Gln663Ter
ENST00000646136.1:n.301C>T
ENST00000647140.1:c.855C>T
ENST00000342771.8:c.1990C>T	ENSP00000344087.4:p.Gln664Ter
ENST00000406775.6:c.1918C>T	ENSP00000385263.2:p.Gln640Ter
ENST00000439256.1:c.88C>T
ENST00000464768.1:n.656C>T
ENST00000465899.1:n.487C>T
ENST00000498384.5:n.358C>T
ENST00000611706.4:c.1246C>T	ENSP00000478134.1:p.Gln416Ter
ENST00000615871.4:c.1174C>T	ENSP00000479325.1:p.Gln392Ter
NM_001127231.2:c.1918C>T	NP_001120703.1:p.Gln640Ter
NM_015570.3:c.1990C>T	NP_056385.1:p.Gln664Ter
XM_005250257.1:c.637C>T	XP_005250314.1:p.Gln213Ter
XM_011516010.1:c.2011C>T	XP_011514312.1:p.Gln671Ter
XM_011516011.1:c.2008C>T	XP_011514313.1:p.Gln670Ter
XM_011516012.1:c.1945C>T	XP_011514314.1:p.Gln649Ter
XM_011516013.1:c.1939C>T	XP_011514315.1:p.Gln647Ter
XM_011516014.1:c.1909C>T	XP_011514316.1:p.Gln637Ter
XM_011516015.1:c.1747C>T	XP_011514317.1:p.Gln583Ter
XM_011516016.1:c.1720C>T	XP_011514318.1:p.Gln574Ter
XM_011516017.1:c.1537C>T	XP_011514319.1:p.Gln513Ter
XM_011516018.1:c.1510C>T	XP_011514320.1:p.Gln504Ter
XM_005250257.2:c.637C>T	XP_005250314.1:p.Gln213Ter
XM_011516010.2:c.2011C>T	XP_011514312.1:p.Gln671Ter
XM_011516011.2:c.2008C>T	XP_011514313.1:p.Gln670Ter
XM_011516012.2:c.1945C>T	XP_011514314.1:p.Gln649Ter
XM_011516013.2:c.1939C>T	XP_011514315.1:p.Gln647Ter
XM_011516014.2:c.1909C>T	XP_011514316.1:p.Gln637Ter
XM_011516017.2:c.1537C>T	XP_011514319.1:p.Gln513Ter
XM_011516018.2:c.1510C>T	XP_011514320.1:p.Gln504Ter
XM_017011951.2:c.2011C>T	XP_016867440.1:p.Gln671Ter
NM_001127231.3:c.1918C>T	NP_001120703.1:p.Gln640Ter
NM_015570.4:c.1990C>T MANE Select	NP_056385.1:p.Gln664Ter