Canonical Allele Identifier: CA367669794

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242124C>G (hg19) ; chr7:g.70777138C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777138C>G , CM000669.2:g.70777138C>G	GRCh38
NC_000007.13:g.70242124C>G , CM000669.1:g.70242124C>G	GRCh37
NC_000007.12:g.69880060C>G	NCBI36
NG_034133.1:g.1183220C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.36C>G	ENSP00000514784.1:p.Ile12Met
ENST00000342771.10:c.1968C>G MANE Select	ENSP00000344087.4:p.Ile656Met
ENST00000439256.2:c.66C>G	ENSP00000407058.2:p.Ile22Met
ENST00000443672.2:c.303C>G	ENSP00000393548.2:p.Ile101Met
ENST00000449547.6:c.61C>G
ENST00000464768.2:n.636C>G
ENST00000644359.1:c.549C>G	ENSP00000494561.1:p.Ile183Met
ENST00000644506.1:c.594C>G	ENSP00000496672.1:p.Ile198Met
ENST00000644939.1:c.1965C>G	ENSP00000496726.1:p.Ile655Met
ENST00000646136.1:n.279C>G
ENST00000647140.1:c.833C>G
ENST00000342771.8:c.1968C>G	ENSP00000344087.4:p.Ile656Met
ENST00000406775.6:c.1896C>G	ENSP00000385263.2:p.Ile632Met
ENST00000439256.1:c.66C>G
ENST00000464768.1:n.634C>G
ENST00000465899.1:n.465C>G
ENST00000498384.5:n.336C>G
ENST00000611706.4:c.1224C>G	ENSP00000478134.1:p.Ile408Met
ENST00000615871.4:c.1152C>G	ENSP00000479325.1:p.Ile384Met
NM_001127231.2:c.1896C>G	NP_001120703.1:p.Ile632Met
NM_015570.3:c.1968C>G	NP_056385.1:p.Ile656Met
XM_005250257.1:c.615C>G	XP_005250314.1:p.Ile205Met
XM_011516010.1:c.1989C>G	XP_011514312.1:p.Ile663Met
XM_011516011.1:c.1986C>G	XP_011514313.1:p.Ile662Met
XM_011516012.1:c.1923C>G	XP_011514314.1:p.Ile641Met
XM_011516013.1:c.1917C>G	XP_011514315.1:p.Ile639Met
XM_011516014.1:c.1887C>G	XP_011514316.1:p.Ile629Met
XM_011516015.1:c.1725C>G	XP_011514317.1:p.Ile575Met
XM_011516016.1:c.1698C>G	XP_011514318.1:p.Ile566Met
XM_011516017.1:c.1515C>G	XP_011514319.1:p.Ile505Met
XM_011516018.1:c.1488C>G	XP_011514320.1:p.Ile496Met
XM_005250257.2:c.615C>G	XP_005250314.1:p.Ile205Met
XM_011516010.2:c.1989C>G	XP_011514312.1:p.Ile663Met
XM_011516011.2:c.1986C>G	XP_011514313.1:p.Ile662Met
XM_011516012.2:c.1923C>G	XP_011514314.1:p.Ile641Met
XM_011516013.2:c.1917C>G	XP_011514315.1:p.Ile639Met
XM_011516014.2:c.1887C>G	XP_011514316.1:p.Ile629Met
XM_011516017.2:c.1515C>G	XP_011514319.1:p.Ile505Met
XM_011516018.2:c.1488C>G	XP_011514320.1:p.Ile496Met
XM_017011951.2:c.1989C>G	XP_016867440.1:p.Ile663Met
NM_001127231.3:c.1896C>G	NP_001120703.1:p.Ile632Met
NM_015570.4:c.1968C>G MANE Select	NP_056385.1:p.Ile656Met