Canonical Allele Identifier: CA367667505

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70228047G>A (hg19) ; chr7:g.70763061G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70763061G>A , CM000669.2:g.70763061G>A	GRCh38
NC_000007.13:g.70228047G>A , CM000669.1:g.70228047G>A	GRCh37
NC_000007.12:g.69865983G>A	NCBI36
NG_034133.1:g.1169143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.934G>A MANE Select	ENSP00000344087.4:p.Glu312Lys
ENST00000443672.2:c.-197-3053G>A	ENSP00000393548.2:n.-197-3053G>A
ENST00000644359.1:c.-438G>A	ENSP00000494561.1:n.-438G>A
ENST00000644506.1:c.-438G>A	ENSP00000496672.1:n.-438G>A
ENST00000644939.1:c.934G>A	ENSP00000496726.1:p.Glu312Lys
ENST00000656200.1:c.-441G>A	ENSP00000499508.1:n.-441G>A
ENST00000342771.8:c.934G>A	ENSP00000344087.4:p.Glu312Lys
ENST00000406775.6:c.934G>A	ENSP00000385263.2:p.Glu312Lys
ENST00000416482.1:c.275G>A
ENST00000611706.4:c.190G>A	ENSP00000478134.1:p.Glu64Lys
ENST00000615871.4:c.190G>A	ENSP00000479325.1:p.Glu64Lys
NM_001127231.2:c.934G>A	NP_001120703.1:p.Glu312Lys
NM_015570.3:c.934G>A	NP_056385.1:p.Glu312Lys
XM_011516010.1:c.934G>A	XP_011514312.1:p.Glu312Lys
XM_011516011.1:c.934G>A	XP_011514313.1:p.Glu312Lys
XM_011516012.1:c.934G>A	XP_011514314.1:p.Glu312Lys
XM_011516013.1:c.934G>A	XP_011514315.1:p.Glu312Lys
XM_011516014.1:c.934G>A	XP_011514316.1:p.Glu312Lys
XM_011516015.1:c.934G>A	XP_011514317.1:p.Glu312Lys
XM_011516016.1:c.643G>A	XP_011514318.1:p.Glu215Lys
XM_011516017.1:c.460G>A	XP_011514319.1:p.Glu154Lys
XM_011516018.1:c.433G>A	XP_011514320.1:p.Glu145Lys
XM_011516010.2:c.934G>A	XP_011514312.1:p.Glu312Lys
XM_011516011.2:c.934G>A	XP_011514313.1:p.Glu312Lys
XM_011516012.2:c.934G>A	XP_011514314.1:p.Glu312Lys
XM_011516013.2:c.934G>A	XP_011514315.1:p.Glu312Lys
XM_011516014.2:c.934G>A	XP_011514316.1:p.Glu312Lys
XM_011516017.2:c.460G>A	XP_011514319.1:p.Glu154Lys
XM_011516018.2:c.433G>A	XP_011514320.1:p.Glu145Lys
XM_017011951.2:c.934G>A	XP_016867440.1:p.Glu312Lys
NM_001127231.3:c.934G>A	NP_001120703.1:p.Glu312Lys
NM_015570.4:c.934G>A MANE Select	NP_056385.1:p.Glu312Lys