Canonical Allele Identifier: CA367669614

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 3024247
• ClinVar RCV Id: RCV003883293
• MyVariant Identifiers: chr7:g.70239086G>A (hg19) ; chr7:g.70774100G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70774100G>A , CM000669.2:g.70774100G>A	GRCh38
NC_000007.13:g.70239086G>A , CM000669.1:g.70239086G>A	GRCh37
NC_000007.12:g.69877022G>A	NCBI36
NG_034133.1:g.1180182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1902+1G>A MANE Select	ENSP00000344087.4:n.1902+1G>A
ENST00000443672.2:c.237+1G>A	ENSP00000393548.2:n.237+1G>A
ENST00000644359.1:c.483+1G>A	ENSP00000494561.1:n.483+1G>A
ENST00000644506.1:c.528+1G>A	ENSP00000496672.1:n.528+1G>A
ENST00000644939.1:c.1899+1G>A	ENSP00000496726.1:n.1899+1G>A
ENST00000644949.1:c.263+2456G>A
ENST00000647140.1:c.767+1G>A
ENST00000342771.8:c.1902+1G>A	ENSP00000344087.4:n.1902+1G>A
ENST00000406775.6:c.1831-1257G>A	ENSP00000385263.2:n.1831-1257G>A
ENST00000443672.1:c.482+1G>A
ENST00000481994.1:n.465G>A
ENST00000498384.5:n.270+1G>A
ENST00000611706.4:c.1158+1G>A	ENSP00000478134.1:n.1158+1G>A
ENST00000615871.4:c.1087-1257G>A	ENSP00000479325.1:n.1087-1257G>A
NM_001127231.2:c.1831-1257G>A	NP_001120703.1:n.1831-1257G>A
NM_015570.3:c.1902+1G>A	NP_056385.1:n.1902+1G>A
XM_005250257.1:c.549+1G>A	XP_005250314.1:n.549+1G>A
XM_011516010.1:c.1923+1G>A	XP_011514312.1:n.1923+1G>A
XM_011516011.1:c.1920+1G>A	XP_011514313.1:n.1920+1G>A
XM_011516012.1:c.1857+1G>A	XP_011514314.1:n.1857+1G>A
XM_011516013.1:c.1852-1257G>A	XP_011514315.1:n.1852-1257G>A
XM_011516014.1:c.1851+2456G>A	XP_011514316.1:n.1851+2456G>A
XM_011516015.1:c.1690-3003G>A	XP_011514317.1:n.1690-3003G>A
XM_011516016.1:c.1632+1G>A	XP_011514318.1:n.1632+1G>A
XM_011516017.1:c.1449+1G>A	XP_011514319.1:n.1449+1G>A
XM_011516018.1:c.1422+1G>A	XP_011514320.1:n.1422+1G>A
XM_005250257.2:c.549+1G>A	XP_005250314.1:n.549+1G>A
XM_011516010.2:c.1923+1G>A	XP_011514312.1:n.1923+1G>A
XM_011516011.2:c.1920+1G>A	XP_011514313.1:n.1920+1G>A
XM_011516012.2:c.1857+1G>A	XP_011514314.1:n.1857+1G>A
XM_011516013.2:c.1852-1257G>A	XP_011514315.1:n.1852-1257G>A
XM_011516014.2:c.1851+2456G>A	XP_011514316.1:n.1851+2456G>A
XM_011516017.2:c.1449+1G>A	XP_011514319.1:n.1449+1G>A
XM_011516018.2:c.1422+1G>A	XP_011514320.1:n.1422+1G>A
XM_017011951.2:c.1923+1G>A	XP_016867440.1:n.1923+1G>A
NM_001127231.3:c.1831-1257G>A	NP_001120703.1:n.1831-1257G>A
NM_015570.4:c.1902+1G>A MANE Select	NP_056385.1:n.1902+1G>A