Canonical Allele Identifier: CA367669850

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242147A>G (hg19) ; chr7:g.70777161A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777161A>G , CM000669.2:g.70777161A>G	GRCh38
NC_000007.13:g.70242147A>G , CM000669.1:g.70242147A>G	GRCh37
NC_000007.12:g.69880083A>G	NCBI36
NG_034133.1:g.1183243A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.59A>G	ENSP00000514784.1:p.Gln20Arg
ENST00000342771.10:c.1991A>G MANE Select	ENSP00000344087.4:p.Gln664Arg
ENST00000439256.2:c.89A>G	ENSP00000407058.2:p.Gln30Arg
ENST00000443672.2:c.326A>G	ENSP00000393548.2:p.Gln109Arg
ENST00000449547.6:c.84A>G
ENST00000464768.2:n.659A>G
ENST00000644359.1:c.572A>G	ENSP00000494561.1:p.Gln191Arg
ENST00000644506.1:c.617A>G	ENSP00000496672.1:p.Gln206Arg
ENST00000644939.1:c.1988A>G	ENSP00000496726.1:p.Gln663Arg
ENST00000646136.1:n.302A>G
ENST00000647140.1:c.856A>G
ENST00000342771.8:c.1991A>G	ENSP00000344087.4:p.Gln664Arg
ENST00000406775.6:c.1919A>G	ENSP00000385263.2:p.Gln640Arg
ENST00000439256.1:c.89A>G
ENST00000464768.1:n.657A>G
ENST00000465899.1:n.488A>G
ENST00000498384.5:n.359A>G
ENST00000611706.4:c.1247A>G	ENSP00000478134.1:p.Gln416Arg
ENST00000615871.4:c.1175A>G	ENSP00000479325.1:p.Gln392Arg
NM_001127231.2:c.1919A>G	NP_001120703.1:p.Gln640Arg
NM_015570.3:c.1991A>G	NP_056385.1:p.Gln664Arg
XM_005250257.1:c.638A>G	XP_005250314.1:p.Gln213Arg
XM_011516010.1:c.2012A>G	XP_011514312.1:p.Gln671Arg
XM_011516011.1:c.2009A>G	XP_011514313.1:p.Gln670Arg
XM_011516012.1:c.1946A>G	XP_011514314.1:p.Gln649Arg
XM_011516013.1:c.1940A>G	XP_011514315.1:p.Gln647Arg
XM_011516014.1:c.1910A>G	XP_011514316.1:p.Gln637Arg
XM_011516015.1:c.1748A>G	XP_011514317.1:p.Gln583Arg
XM_011516016.1:c.1721A>G	XP_011514318.1:p.Gln574Arg
XM_011516017.1:c.1538A>G	XP_011514319.1:p.Gln513Arg
XM_011516018.1:c.1511A>G	XP_011514320.1:p.Gln504Arg
XM_005250257.2:c.638A>G	XP_005250314.1:p.Gln213Arg
XM_011516010.2:c.2012A>G	XP_011514312.1:p.Gln671Arg
XM_011516011.2:c.2009A>G	XP_011514313.1:p.Gln670Arg
XM_011516012.2:c.1946A>G	XP_011514314.1:p.Gln649Arg
XM_011516013.2:c.1940A>G	XP_011514315.1:p.Gln647Arg
XM_011516014.2:c.1910A>G	XP_011514316.1:p.Gln637Arg
XM_011516017.2:c.1538A>G	XP_011514319.1:p.Gln513Arg
XM_011516018.2:c.1511A>G	XP_011514320.1:p.Gln504Arg
XM_017011951.2:c.2012A>G	XP_016867440.1:p.Gln671Arg
NM_001127231.3:c.1919A>G	NP_001120703.1:p.Gln640Arg
NM_015570.4:c.1991A>G MANE Select	NP_056385.1:p.Gln664Arg