Canonical Allele Identifier: CA367669851

Gene: AUTS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.59A>T	ENSP00000514784.1:p.Gln20Leu
ENST00000342771.10:c.1991A>T MANE Select	ENSP00000344087.4:p.Gln664Leu
ENST00000439256.2:c.89A>T	ENSP00000407058.2:p.Gln30Leu
ENST00000443672.2:c.326A>T	ENSP00000393548.2:p.Gln109Leu
ENST00000449547.6:c.84A>T
ENST00000464768.2:n.659A>T
ENST00000644359.1:c.572A>T	ENSP00000494561.1:p.Gln191Leu
ENST00000644506.1:c.617A>T	ENSP00000496672.1:p.Gln206Leu
ENST00000644939.1:c.1988A>T	ENSP00000496726.1:p.Gln663Leu
ENST00000646136.1:n.302A>T
ENST00000647140.1:c.856A>T
ENST00000342771.8:c.1991A>T	ENSP00000344087.4:p.Gln664Leu
ENST00000406775.6:c.1919A>T	ENSP00000385263.2:p.Gln640Leu
ENST00000439256.1:c.89A>T
ENST00000464768.1:n.657A>T
ENST00000465899.1:n.488A>T
ENST00000498384.5:n.359A>T
ENST00000611706.4:c.1247A>T	ENSP00000478134.1:p.Gln416Leu
ENST00000615871.4:c.1175A>T	ENSP00000479325.1:p.Gln392Leu
NM_001127231.2:c.1919A>T	NP_001120703.1:p.Gln640Leu
NM_015570.3:c.1991A>T	NP_056385.1:p.Gln664Leu
XM_005250257.1:c.638A>T	XP_005250314.1:p.Gln213Leu
XM_011516010.1:c.2012A>T	XP_011514312.1:p.Gln671Leu
XM_011516011.1:c.2009A>T	XP_011514313.1:p.Gln670Leu
XM_011516012.1:c.1946A>T	XP_011514314.1:p.Gln649Leu
XM_011516013.1:c.1940A>T	XP_011514315.1:p.Gln647Leu
XM_011516014.1:c.1910A>T	XP_011514316.1:p.Gln637Leu
XM_011516015.1:c.1748A>T	XP_011514317.1:p.Gln583Leu
XM_011516016.1:c.1721A>T	XP_011514318.1:p.Gln574Leu
XM_011516017.1:c.1538A>T	XP_011514319.1:p.Gln513Leu
XM_011516018.1:c.1511A>T	XP_011514320.1:p.Gln504Leu
XM_005250257.2:c.638A>T	XP_005250314.1:p.Gln213Leu
XM_011516010.2:c.2012A>T	XP_011514312.1:p.Gln671Leu
XM_011516011.2:c.2009A>T	XP_011514313.1:p.Gln670Leu
XM_011516012.2:c.1946A>T	XP_011514314.1:p.Gln649Leu
XM_011516013.2:c.1940A>T	XP_011514315.1:p.Gln647Leu
XM_011516014.2:c.1910A>T	XP_011514316.1:p.Gln637Leu
XM_011516017.2:c.1538A>T	XP_011514319.1:p.Gln513Leu
XM_011516018.2:c.1511A>T	XP_011514320.1:p.Gln504Leu
XM_017011951.2:c.2012A>T	XP_016867440.1:p.Gln671Leu
NM_001127231.3:c.1919A>T	NP_001120703.1:p.Gln640Leu
NM_015570.4:c.1991A>T MANE Select	NP_056385.1:p.Gln664Leu