Canonical Allele Identifier: CA455803135

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70777147-G-A
• MyVariant Identifiers: chr7:g.70242133G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777147G>A , CM000669.2:g.70777147G>A	GRCh38
NC_000007.13:g.70242133G>A , CM000669.1:g.70242133G>A	GRCh37
NC_000007.12:g.69880069G>A	NCBI36
NG_034133.1:g.1183229G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.45G>A	ENSP00000514784.1:p.Gln15=
ENST00000342771.10:c.1977G>A MANE Select	ENSP00000344087.4:p.Gln659=
ENST00000439256.2:c.75G>A	ENSP00000407058.2:p.Gln25=
ENST00000443672.2:c.312G>A	ENSP00000393548.2:p.Gln104=
ENST00000449547.6:c.70G>A
ENST00000464768.2:n.645G>A
ENST00000644359.1:c.558G>A	ENSP00000494561.1:p.Gln186=
ENST00000644506.1:c.603G>A	ENSP00000496672.1:p.Gln201=
ENST00000644939.1:c.1974G>A	ENSP00000496726.1:p.Gln658=
ENST00000646136.1:n.288G>A
ENST00000647140.1:c.842G>A
ENST00000342771.8:c.1977G>A	ENSP00000344087.4:p.Gln659=
ENST00000406775.6:c.1905G>A	ENSP00000385263.2:p.Gln635=
ENST00000439256.1:c.75G>A
ENST00000464768.1:n.643G>A
ENST00000465899.1:n.474G>A
ENST00000498384.5:n.345G>A
ENST00000611706.4:c.1233G>A	ENSP00000478134.1:p.Gln411=
ENST00000615871.4:c.1161G>A	ENSP00000479325.1:p.Gln387=
NM_001127231.2:c.1905G>A	NP_001120703.1:p.Gln635=
NM_015570.3:c.1977G>A	NP_056385.1:p.Gln659=
XM_005250257.1:c.624G>A	XP_005250314.1:p.Gln208=
XM_011516010.1:c.1998G>A	XP_011514312.1:p.Gln666=
XM_011516011.1:c.1995G>A	XP_011514313.1:p.Gln665=
XM_011516012.1:c.1932G>A	XP_011514314.1:p.Gln644=
XM_011516013.1:c.1926G>A	XP_011514315.1:p.Gln642=
XM_011516014.1:c.1896G>A	XP_011514316.1:p.Gln632=
XM_011516015.1:c.1734G>A	XP_011514317.1:p.Gln578=
XM_011516016.1:c.1707G>A	XP_011514318.1:p.Gln569=
XM_011516017.1:c.1524G>A	XP_011514319.1:p.Gln508=
XM_011516018.1:c.1497G>A	XP_011514320.1:p.Gln499=
XM_005250257.2:c.624G>A	XP_005250314.1:p.Gln208=
XM_011516010.2:c.1998G>A	XP_011514312.1:p.Gln666=
XM_011516011.2:c.1995G>A	XP_011514313.1:p.Gln665=
XM_011516012.2:c.1932G>A	XP_011514314.1:p.Gln644=
XM_011516013.2:c.1926G>A	XP_011514315.1:p.Gln642=
XM_011516014.2:c.1896G>A	XP_011514316.1:p.Gln632=
XM_011516017.2:c.1524G>A	XP_011514319.1:p.Gln508=
XM_011516018.2:c.1497G>A	XP_011514320.1:p.Gln499=
XM_017011951.2:c.1998G>A	XP_016867440.1:p.Gln666=
NM_001127231.3:c.1905G>A	NP_001120703.1:p.Gln635=
NM_015570.4:c.1977G>A MANE Select	NP_056385.1:p.Gln659=