Canonical Allele Identifier: CA367669780

Gene: AUTS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.31C>A	ENSP00000514784.1:p.His11Asn
ENST00000342771.10:c.1963C>A MANE Select	ENSP00000344087.4:p.His655Asn
ENST00000439256.2:c.61C>A	ENSP00000407058.2:p.His21Asn
ENST00000443672.2:c.298C>A	ENSP00000393548.2:p.His100Asn
ENST00000449547.6:c.56C>A
ENST00000464768.2:n.631C>A
ENST00000644359.1:c.544C>A	ENSP00000494561.1:p.His182Asn
ENST00000644506.1:c.589C>A	ENSP00000496672.1:p.His197Asn
ENST00000644939.1:c.1960C>A	ENSP00000496726.1:p.His654Asn
ENST00000644949.1:c.294C>A
ENST00000646136.1:n.274C>A
ENST00000647140.1:c.828C>A
ENST00000342771.8:c.1963C>A	ENSP00000344087.4:p.His655Asn
ENST00000406775.6:c.1891C>A	ENSP00000385263.2:p.His631Asn
ENST00000439256.1:c.61C>A
ENST00000464768.1:n.629C>A
ENST00000465899.1:n.460C>A
ENST00000498384.5:n.331C>A
ENST00000611706.4:c.1219C>A	ENSP00000478134.1:p.His407Asn
ENST00000615871.4:c.1147C>A	ENSP00000479325.1:p.His383Asn
NM_001127231.2:c.1891C>A	NP_001120703.1:p.His631Asn
NM_015570.3:c.1963C>A	NP_056385.1:p.His655Asn
XM_005250257.1:c.610C>A	XP_005250314.1:p.His204Asn
XM_011516010.1:c.1984C>A	XP_011514312.1:p.His662Asn
XM_011516011.1:c.1981C>A	XP_011514313.1:p.His661Asn
XM_011516012.1:c.1918C>A	XP_011514314.1:p.His640Asn
XM_011516013.1:c.1912C>A	XP_011514315.1:p.His638Asn
XM_011516014.1:c.1882C>A	XP_011514316.1:p.His628Asn
XM_011516015.1:c.1720C>A	XP_011514317.1:p.His574Asn
XM_011516016.1:c.1693C>A	XP_011514318.1:p.His565Asn
XM_011516017.1:c.1510C>A	XP_011514319.1:p.His504Asn
XM_011516018.1:c.1483C>A	XP_011514320.1:p.His495Asn
XM_005250257.2:c.610C>A	XP_005250314.1:p.His204Asn
XM_011516010.2:c.1984C>A	XP_011514312.1:p.His662Asn
XM_011516011.2:c.1981C>A	XP_011514313.1:p.His661Asn
XM_011516012.2:c.1918C>A	XP_011514314.1:p.His640Asn
XM_011516013.2:c.1912C>A	XP_011514315.1:p.His638Asn
XM_011516014.2:c.1882C>A	XP_011514316.1:p.His628Asn
XM_011516017.2:c.1510C>A	XP_011514319.1:p.His504Asn
XM_011516018.2:c.1483C>A	XP_011514320.1:p.His495Asn
XM_017011951.2:c.1984C>A	XP_016867440.1:p.His662Asn
NM_001127231.3:c.1891C>A	NP_001120703.1:p.His631Asn
NM_015570.4:c.1963C>A MANE Select	NP_056385.1:p.His655Asn