Canonical Allele Identifier: CA455803146

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242154A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777168A>G , CM000669.2:g.70777168A>G	GRCh38
NC_000007.13:g.70242154A>G , CM000669.1:g.70242154A>G	GRCh37
NC_000007.12:g.69880090A>G	NCBI36
NG_034133.1:g.1183250A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.66A>G	ENSP00000514784.1:p.Lys22=
ENST00000342771.10:c.1998A>G MANE Select	ENSP00000344087.4:p.Lys666=
ENST00000439256.2:c.96A>G	ENSP00000407058.2:p.Lys32=
ENST00000443672.2:c.333A>G	ENSP00000393548.2:p.Lys111=
ENST00000449547.6:c.91A>G
ENST00000464768.2:n.666A>G
ENST00000644359.1:c.579A>G	ENSP00000494561.1:p.Lys193=
ENST00000644506.1:c.624A>G	ENSP00000496672.1:p.Lys208=
ENST00000644939.1:c.1995A>G	ENSP00000496726.1:p.Lys665=
ENST00000646136.1:n.309A>G
ENST00000647140.1:c.863A>G
ENST00000342771.8:c.1998A>G	ENSP00000344087.4:p.Lys666=
ENST00000406775.6:c.1926A>G	ENSP00000385263.2:p.Lys642=
ENST00000439256.1:c.96A>G
ENST00000464768.1:n.664A>G
ENST00000465899.1:n.495A>G
ENST00000498384.5:n.366A>G
ENST00000611706.4:c.1254A>G	ENSP00000478134.1:p.Lys418=
ENST00000615871.4:c.1182A>G	ENSP00000479325.1:p.Lys394=
NM_001127231.2:c.1926A>G	NP_001120703.1:p.Lys642=
NM_015570.3:c.1998A>G	NP_056385.1:p.Lys666=
XM_005250257.1:c.645A>G	XP_005250314.1:p.Lys215=
XM_011516010.1:c.2019A>G	XP_011514312.1:p.Lys673=
XM_011516011.1:c.2016A>G	XP_011514313.1:p.Lys672=
XM_011516012.1:c.1953A>G	XP_011514314.1:p.Lys651=
XM_011516013.1:c.1947A>G	XP_011514315.1:p.Lys649=
XM_011516014.1:c.1917A>G	XP_011514316.1:p.Lys639=
XM_011516015.1:c.1755A>G	XP_011514317.1:p.Lys585=
XM_011516016.1:c.1728A>G	XP_011514318.1:p.Lys576=
XM_011516017.1:c.1545A>G	XP_011514319.1:p.Lys515=
XM_011516018.1:c.1518A>G	XP_011514320.1:p.Lys506=
XM_005250257.2:c.645A>G	XP_005250314.1:p.Lys215=
XM_011516010.2:c.2019A>G	XP_011514312.1:p.Lys673=
XM_011516011.2:c.2016A>G	XP_011514313.1:p.Lys672=
XM_011516012.2:c.1953A>G	XP_011514314.1:p.Lys651=
XM_011516013.2:c.1947A>G	XP_011514315.1:p.Lys649=
XM_011516014.2:c.1917A>G	XP_011514316.1:p.Lys639=
XM_011516017.2:c.1545A>G	XP_011514319.1:p.Lys515=
XM_011516018.2:c.1518A>G	XP_011514320.1:p.Lys506=
XM_017011951.2:c.2019A>G	XP_016867440.1:p.Lys673=
NM_001127231.3:c.1926A>G	NP_001120703.1:p.Lys642=
NM_015570.4:c.1998A>G MANE Select	NP_056385.1:p.Lys666=