Canonical Allele Identifier: CA367669773

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242115T>G (hg19) ; chr7:g.70777129T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777129T>G , CM000669.2:g.70777129T>G	GRCh38
NC_000007.13:g.70242115T>G , CM000669.1:g.70242115T>G	GRCh37
NC_000007.12:g.69880051T>G	NCBI36
NG_034133.1:g.1183211T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.27T>G	ENSP00000514784.1:p.His9Gln
ENST00000342771.10:c.1959T>G MANE Select	ENSP00000344087.4:p.His653Gln
ENST00000439256.2:c.57T>G	ENSP00000407058.2:p.His19Gln
ENST00000443672.2:c.294T>G	ENSP00000393548.2:p.His98Gln
ENST00000449547.6:c.52T>G
ENST00000464768.2:n.627T>G
ENST00000644359.1:c.540T>G	ENSP00000494561.1:p.His180Gln
ENST00000644506.1:c.585T>G	ENSP00000496672.1:p.His195Gln
ENST00000644939.1:c.1956T>G	ENSP00000496726.1:p.His652Gln
ENST00000644949.1:c.290T>G
ENST00000646136.1:n.270T>G
ENST00000647140.1:c.824T>G
ENST00000342771.8:c.1959T>G	ENSP00000344087.4:p.His653Gln
ENST00000406775.6:c.1887T>G	ENSP00000385263.2:p.His629Gln
ENST00000439256.1:c.57T>G
ENST00000443672.1:c.539T>G
ENST00000464768.1:n.625T>G
ENST00000465899.1:n.456T>G
ENST00000498384.5:n.327T>G
ENST00000611706.4:c.1215T>G	ENSP00000478134.1:p.His405Gln
ENST00000615871.4:c.1143T>G	ENSP00000479325.1:p.His381Gln
NM_001127231.2:c.1887T>G	NP_001120703.1:p.His629Gln
NM_015570.3:c.1959T>G	NP_056385.1:p.His653Gln
XM_005250257.1:c.606T>G	XP_005250314.1:p.His202Gln
XM_011516010.1:c.1980T>G	XP_011514312.1:p.His660Gln
XM_011516011.1:c.1977T>G	XP_011514313.1:p.His659Gln
XM_011516012.1:c.1914T>G	XP_011514314.1:p.His638Gln
XM_011516013.1:c.1908T>G	XP_011514315.1:p.His636Gln
XM_011516014.1:c.1878T>G	XP_011514316.1:p.His626Gln
XM_011516015.1:c.1716T>G	XP_011514317.1:p.His572Gln
XM_011516016.1:c.1689T>G	XP_011514318.1:p.His563Gln
XM_011516017.1:c.1506T>G	XP_011514319.1:p.His502Gln
XM_011516018.1:c.1479T>G	XP_011514320.1:p.His493Gln
XM_005250257.2:c.606T>G	XP_005250314.1:p.His202Gln
XM_011516010.2:c.1980T>G	XP_011514312.1:p.His660Gln
XM_011516011.2:c.1977T>G	XP_011514313.1:p.His659Gln
XM_011516012.2:c.1914T>G	XP_011514314.1:p.His638Gln
XM_011516013.2:c.1908T>G	XP_011514315.1:p.His636Gln
XM_011516014.2:c.1878T>G	XP_011514316.1:p.His626Gln
XM_011516017.2:c.1506T>G	XP_011514319.1:p.His502Gln
XM_011516018.2:c.1479T>G	XP_011514320.1:p.His493Gln
XM_017011951.2:c.1980T>G	XP_016867440.1:p.His660Gln
NM_001127231.3:c.1887T>G	NP_001120703.1:p.His629Gln
NM_015570.4:c.1959T>G MANE Select	NP_056385.1:p.His653Gln