Canonical Allele Identifier: CA367669869

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242154A>T (hg19) ; chr7:g.70777168A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.66A>T	ENSP00000514784.1:p.Lys22Asn
ENST00000342771.10:c.1998A>T MANE Select	ENSP00000344087.4:p.Lys666Asn
ENST00000439256.2:c.96A>T	ENSP00000407058.2:p.Lys32Asn
ENST00000443672.2:c.333A>T	ENSP00000393548.2:p.Lys111Asn
ENST00000449547.6:c.91A>T
ENST00000464768.2:n.666A>T
ENST00000644359.1:c.579A>T	ENSP00000494561.1:p.Lys193Asn
ENST00000644506.1:c.624A>T	ENSP00000496672.1:p.Lys208Asn
ENST00000644939.1:c.1995A>T	ENSP00000496726.1:p.Lys665Asn
ENST00000646136.1:n.309A>T
ENST00000647140.1:c.863A>T
ENST00000342771.8:c.1998A>T	ENSP00000344087.4:p.Lys666Asn
ENST00000406775.6:c.1926A>T	ENSP00000385263.2:p.Lys642Asn
ENST00000439256.1:c.96A>T
ENST00000464768.1:n.664A>T
ENST00000465899.1:n.495A>T
ENST00000498384.5:n.366A>T
ENST00000611706.4:c.1254A>T	ENSP00000478134.1:p.Lys418Asn
ENST00000615871.4:c.1182A>T	ENSP00000479325.1:p.Lys394Asn
NM_001127231.2:c.1926A>T	NP_001120703.1:p.Lys642Asn
NM_015570.3:c.1998A>T	NP_056385.1:p.Lys666Asn
XM_005250257.1:c.645A>T	XP_005250314.1:p.Lys215Asn
XM_011516010.1:c.2019A>T	XP_011514312.1:p.Lys673Asn
XM_011516011.1:c.2016A>T	XP_011514313.1:p.Lys672Asn
XM_011516012.1:c.1953A>T	XP_011514314.1:p.Lys651Asn
XM_011516013.1:c.1947A>T	XP_011514315.1:p.Lys649Asn
XM_011516014.1:c.1917A>T	XP_011514316.1:p.Lys639Asn
XM_011516015.1:c.1755A>T	XP_011514317.1:p.Lys585Asn
XM_011516016.1:c.1728A>T	XP_011514318.1:p.Lys576Asn
XM_011516017.1:c.1545A>T	XP_011514319.1:p.Lys515Asn
XM_011516018.1:c.1518A>T	XP_011514320.1:p.Lys506Asn
XM_005250257.2:c.645A>T	XP_005250314.1:p.Lys215Asn
XM_011516010.2:c.2019A>T	XP_011514312.1:p.Lys673Asn
XM_011516011.2:c.2016A>T	XP_011514313.1:p.Lys672Asn
XM_011516012.2:c.1953A>T	XP_011514314.1:p.Lys651Asn
XM_011516013.2:c.1947A>T	XP_011514315.1:p.Lys649Asn
XM_011516014.2:c.1917A>T	XP_011514316.1:p.Lys639Asn
XM_011516017.2:c.1545A>T	XP_011514319.1:p.Lys515Asn
XM_011516018.2:c.1518A>T	XP_011514320.1:p.Lys506Asn
XM_017011951.2:c.2019A>T	XP_016867440.1:p.Lys673Asn
NM_001127231.3:c.1926A>T	NP_001120703.1:p.Lys642Asn
NM_015570.4:c.1998A>T MANE Select	NP_056385.1:p.Lys666Asn