Canonical Allele Identifier: CA160034313

Gene: AUTS2

Linked Data

• dbSNP Id: rs933059279
• gnomAD v2: 7-70242151-G-A
• gnomAD v3: 7-70777165-G-A
• gnomAD v4: 7-70777165-G-A
• MyVariant Identifiers: chr7:g.70242151G>A (hg19) ; chr7:g.70777165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777165G>A , CM000669.2:g.70777165G>A	GRCh38
NC_000007.13:g.70242151G>A , CM000669.1:g.70242151G>A	GRCh37
NC_000007.12:g.69880087G>A	NCBI36
NG_034133.1:g.1183247G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.63G>A	ENSP00000514784.1:p.Gln21=
ENST00000342771.10:c.1995G>A MANE Select	ENSP00000344087.4:p.Gln665=
ENST00000439256.2:c.93G>A	ENSP00000407058.2:p.Gln31=
ENST00000443672.2:c.330G>A	ENSP00000393548.2:p.Gln110=
ENST00000449547.6:c.88G>A
ENST00000464768.2:n.663G>A
ENST00000644359.1:c.576G>A	ENSP00000494561.1:p.Gln192=
ENST00000644506.1:c.621G>A	ENSP00000496672.1:p.Gln207=
ENST00000644939.1:c.1992G>A	ENSP00000496726.1:p.Gln664=
ENST00000646136.1:n.306G>A
ENST00000647140.1:c.860G>A
ENST00000342771.8:c.1995G>A	ENSP00000344087.4:p.Gln665=
ENST00000406775.6:c.1923G>A	ENSP00000385263.2:p.Gln641=
ENST00000439256.1:c.93G>A
ENST00000464768.1:n.661G>A
ENST00000465899.1:n.492G>A
ENST00000498384.5:n.363G>A
ENST00000611706.4:c.1251G>A	ENSP00000478134.1:p.Gln417=
ENST00000615871.4:c.1179G>A	ENSP00000479325.1:p.Gln393=
NM_001127231.2:c.1923G>A	NP_001120703.1:p.Gln641=
NM_015570.3:c.1995G>A	NP_056385.1:p.Gln665=
XM_005250257.1:c.642G>A	XP_005250314.1:p.Gln214=
XM_011516010.1:c.2016G>A	XP_011514312.1:p.Gln672=
XM_011516011.1:c.2013G>A	XP_011514313.1:p.Gln671=
XM_011516012.1:c.1950G>A	XP_011514314.1:p.Gln650=
XM_011516013.1:c.1944G>A	XP_011514315.1:p.Gln648=
XM_011516014.1:c.1914G>A	XP_011514316.1:p.Gln638=
XM_011516015.1:c.1752G>A	XP_011514317.1:p.Gln584=
XM_011516016.1:c.1725G>A	XP_011514318.1:p.Gln575=
XM_011516017.1:c.1542G>A	XP_011514319.1:p.Gln514=
XM_011516018.1:c.1515G>A	XP_011514320.1:p.Gln505=
XM_005250257.2:c.642G>A	XP_005250314.1:p.Gln214=
XM_011516010.2:c.2016G>A	XP_011514312.1:p.Gln672=
XM_011516011.2:c.2013G>A	XP_011514313.1:p.Gln671=
XM_011516012.2:c.1950G>A	XP_011514314.1:p.Gln650=
XM_011516013.2:c.1944G>A	XP_011514315.1:p.Gln648=
XM_011516014.2:c.1914G>A	XP_011514316.1:p.Gln638=
XM_011516017.2:c.1542G>A	XP_011514319.1:p.Gln514=
XM_011516018.2:c.1515G>A	XP_011514320.1:p.Gln505=
XM_017011951.2:c.2016G>A	XP_016867440.1:p.Gln672=
NM_001127231.3:c.1923G>A	NP_001120703.1:p.Gln641=
NM_015570.4:c.1995G>A MANE Select	NP_056385.1:p.Gln665=