Canonical Allele Identifier: CA367669793

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242123T>G (hg19) ; chr7:g.70777137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777137T>G , CM000669.2:g.70777137T>G	GRCh38
NC_000007.13:g.70242123T>G , CM000669.1:g.70242123T>G	GRCh37
NC_000007.12:g.69880059T>G	NCBI36
NG_034133.1:g.1183219T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.35T>G	ENSP00000514784.1:p.Ile12Ser
ENST00000342771.10:c.1967T>G MANE Select	ENSP00000344087.4:p.Ile656Ser
ENST00000439256.2:c.65T>G	ENSP00000407058.2:p.Ile22Ser
ENST00000443672.2:c.302T>G	ENSP00000393548.2:p.Ile101Ser
ENST00000449547.6:c.60T>G
ENST00000464768.2:n.635T>G
ENST00000644359.1:c.548T>G	ENSP00000494561.1:p.Ile183Ser
ENST00000644506.1:c.593T>G	ENSP00000496672.1:p.Ile198Ser
ENST00000644939.1:c.1964T>G	ENSP00000496726.1:p.Ile655Ser
ENST00000646136.1:n.278T>G
ENST00000647140.1:c.832T>G
ENST00000342771.8:c.1967T>G	ENSP00000344087.4:p.Ile656Ser
ENST00000406775.6:c.1895T>G	ENSP00000385263.2:p.Ile632Ser
ENST00000439256.1:c.65T>G
ENST00000464768.1:n.633T>G
ENST00000465899.1:n.464T>G
ENST00000498384.5:n.335T>G
ENST00000611706.4:c.1223T>G	ENSP00000478134.1:p.Ile408Ser
ENST00000615871.4:c.1151T>G	ENSP00000479325.1:p.Ile384Ser
NM_001127231.2:c.1895T>G	NP_001120703.1:p.Ile632Ser
NM_015570.3:c.1967T>G	NP_056385.1:p.Ile656Ser
XM_005250257.1:c.614T>G	XP_005250314.1:p.Ile205Ser
XM_011516010.1:c.1988T>G	XP_011514312.1:p.Ile663Ser
XM_011516011.1:c.1985T>G	XP_011514313.1:p.Ile662Ser
XM_011516012.1:c.1922T>G	XP_011514314.1:p.Ile641Ser
XM_011516013.1:c.1916T>G	XP_011514315.1:p.Ile639Ser
XM_011516014.1:c.1886T>G	XP_011514316.1:p.Ile629Ser
XM_011516015.1:c.1724T>G	XP_011514317.1:p.Ile575Ser
XM_011516016.1:c.1697T>G	XP_011514318.1:p.Ile566Ser
XM_011516017.1:c.1514T>G	XP_011514319.1:p.Ile505Ser
XM_011516018.1:c.1487T>G	XP_011514320.1:p.Ile496Ser
XM_005250257.2:c.614T>G	XP_005250314.1:p.Ile205Ser
XM_011516010.2:c.1988T>G	XP_011514312.1:p.Ile663Ser
XM_011516011.2:c.1985T>G	XP_011514313.1:p.Ile662Ser
XM_011516012.2:c.1922T>G	XP_011514314.1:p.Ile641Ser
XM_011516013.2:c.1916T>G	XP_011514315.1:p.Ile639Ser
XM_011516014.2:c.1886T>G	XP_011514316.1:p.Ile629Ser
XM_011516017.2:c.1514T>G	XP_011514319.1:p.Ile505Ser
XM_011516018.2:c.1487T>G	XP_011514320.1:p.Ile496Ser
XM_017011951.2:c.1988T>G	XP_016867440.1:p.Ile663Ser
NM_001127231.3:c.1895T>G	NP_001120703.1:p.Ile632Ser
NM_015570.4:c.1967T>G MANE Select	NP_056385.1:p.Ile656Ser