Canonical Allele Identifier: CA367669852

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242148A>C (hg19) ; chr7:g.70777162A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777162A>C , CM000669.2:g.70777162A>C	GRCh38
NC_000007.13:g.70242148A>C , CM000669.1:g.70242148A>C	GRCh37
NC_000007.12:g.69880084A>C	NCBI36
NG_034133.1:g.1183244A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.60A>C	ENSP00000514784.1:p.Gln20His
ENST00000342771.10:c.1992A>C MANE Select	ENSP00000344087.4:p.Gln664His
ENST00000439256.2:c.90A>C	ENSP00000407058.2:p.Gln30His
ENST00000443672.2:c.327A>C	ENSP00000393548.2:p.Gln109His
ENST00000449547.6:c.85A>C
ENST00000464768.2:n.660A>C
ENST00000644359.1:c.573A>C	ENSP00000494561.1:p.Gln191His
ENST00000644506.1:c.618A>C	ENSP00000496672.1:p.Gln206His
ENST00000644939.1:c.1989A>C	ENSP00000496726.1:p.Gln663His
ENST00000646136.1:n.303A>C
ENST00000647140.1:c.857A>C
ENST00000342771.8:c.1992A>C	ENSP00000344087.4:p.Gln664His
ENST00000406775.6:c.1920A>C	ENSP00000385263.2:p.Gln640His
ENST00000439256.1:c.90A>C
ENST00000464768.1:n.658A>C
ENST00000465899.1:n.489A>C
ENST00000498384.5:n.360A>C
ENST00000611706.4:c.1248A>C	ENSP00000478134.1:p.Gln416His
ENST00000615871.4:c.1176A>C	ENSP00000479325.1:p.Gln392His
NM_001127231.2:c.1920A>C	NP_001120703.1:p.Gln640His
NM_015570.3:c.1992A>C	NP_056385.1:p.Gln664His
XM_005250257.1:c.639A>C	XP_005250314.1:p.Gln213His
XM_011516010.1:c.2013A>C	XP_011514312.1:p.Gln671His
XM_011516011.1:c.2010A>C	XP_011514313.1:p.Gln670His
XM_011516012.1:c.1947A>C	XP_011514314.1:p.Gln649His
XM_011516013.1:c.1941A>C	XP_011514315.1:p.Gln647His
XM_011516014.1:c.1911A>C	XP_011514316.1:p.Gln637His
XM_011516015.1:c.1749A>C	XP_011514317.1:p.Gln583His
XM_011516016.1:c.1722A>C	XP_011514318.1:p.Gln574His
XM_011516017.1:c.1539A>C	XP_011514319.1:p.Gln513His
XM_011516018.1:c.1512A>C	XP_011514320.1:p.Gln504His
XM_005250257.2:c.639A>C	XP_005250314.1:p.Gln213His
XM_011516010.2:c.2013A>C	XP_011514312.1:p.Gln671His
XM_011516011.2:c.2010A>C	XP_011514313.1:p.Gln670His
XM_011516012.2:c.1947A>C	XP_011514314.1:p.Gln649His
XM_011516013.2:c.1941A>C	XP_011514315.1:p.Gln647His
XM_011516014.2:c.1911A>C	XP_011514316.1:p.Gln637His
XM_011516017.2:c.1539A>C	XP_011514319.1:p.Gln513His
XM_011516018.2:c.1512A>C	XP_011514320.1:p.Gln504His
XM_017011951.2:c.2013A>C	XP_016867440.1:p.Gln671His
NM_001127231.3:c.1920A>C	NP_001120703.1:p.Gln640His
NM_015570.4:c.1992A>C MANE Select	NP_056385.1:p.Gln664His