Canonical Allele Identifier: CA367669781

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242119C>G (hg19) ; chr7:g.70777133C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777133C>G , CM000669.2:g.70777133C>G	GRCh38
NC_000007.13:g.70242119C>G , CM000669.1:g.70242119C>G	GRCh37
NC_000007.12:g.69880055C>G	NCBI36
NG_034133.1:g.1183215C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.31C>G	ENSP00000514784.1:p.His11Asp
ENST00000342771.10:c.1963C>G MANE Select	ENSP00000344087.4:p.His655Asp
ENST00000439256.2:c.61C>G	ENSP00000407058.2:p.His21Asp
ENST00000443672.2:c.298C>G	ENSP00000393548.2:p.His100Asp
ENST00000449547.6:c.56C>G
ENST00000464768.2:n.631C>G
ENST00000644359.1:c.544C>G	ENSP00000494561.1:p.His182Asp
ENST00000644506.1:c.589C>G	ENSP00000496672.1:p.His197Asp
ENST00000644939.1:c.1960C>G	ENSP00000496726.1:p.His654Asp
ENST00000644949.1:c.294C>G
ENST00000646136.1:n.274C>G
ENST00000647140.1:c.828C>G
ENST00000342771.8:c.1963C>G	ENSP00000344087.4:p.His655Asp
ENST00000406775.6:c.1891C>G	ENSP00000385263.2:p.His631Asp
ENST00000439256.1:c.61C>G
ENST00000464768.1:n.629C>G
ENST00000465899.1:n.460C>G
ENST00000498384.5:n.331C>G
ENST00000611706.4:c.1219C>G	ENSP00000478134.1:p.His407Asp
ENST00000615871.4:c.1147C>G	ENSP00000479325.1:p.His383Asp
NM_001127231.2:c.1891C>G	NP_001120703.1:p.His631Asp
NM_015570.3:c.1963C>G	NP_056385.1:p.His655Asp
XM_005250257.1:c.610C>G	XP_005250314.1:p.His204Asp
XM_011516010.1:c.1984C>G	XP_011514312.1:p.His662Asp
XM_011516011.1:c.1981C>G	XP_011514313.1:p.His661Asp
XM_011516012.1:c.1918C>G	XP_011514314.1:p.His640Asp
XM_011516013.1:c.1912C>G	XP_011514315.1:p.His638Asp
XM_011516014.1:c.1882C>G	XP_011514316.1:p.His628Asp
XM_011516015.1:c.1720C>G	XP_011514317.1:p.His574Asp
XM_011516016.1:c.1693C>G	XP_011514318.1:p.His565Asp
XM_011516017.1:c.1510C>G	XP_011514319.1:p.His504Asp
XM_011516018.1:c.1483C>G	XP_011514320.1:p.His495Asp
XM_005250257.2:c.610C>G	XP_005250314.1:p.His204Asp
XM_011516010.2:c.1984C>G	XP_011514312.1:p.His662Asp
XM_011516011.2:c.1981C>G	XP_011514313.1:p.His661Asp
XM_011516012.2:c.1918C>G	XP_011514314.1:p.His640Asp
XM_011516013.2:c.1912C>G	XP_011514315.1:p.His638Asp
XM_011516014.2:c.1882C>G	XP_011514316.1:p.His628Asp
XM_011516017.2:c.1510C>G	XP_011514319.1:p.His504Asp
XM_011516018.2:c.1483C>G	XP_011514320.1:p.His495Asp
XM_017011951.2:c.1984C>G	XP_016867440.1:p.His662Asp
NM_001127231.3:c.1891C>G	NP_001120703.1:p.His631Asp
NM_015570.4:c.1963C>G MANE Select	NP_056385.1:p.His655Asp