Canonical Allele Identifier: CA10602965

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 280395
• ClinVar RCV Id: RCV000301706
• dbSNP Id: rs886041609
• MyVariant Identifiers: chr7:g.70242130G>A (hg19) ; chr7:g.70777144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777144G>A , CM000669.2:g.70777144G>A	GRCh38
NC_000007.13:g.70242130G>A , CM000669.1:g.70242130G>A	GRCh37
NC_000007.12:g.69880066G>A	NCBI36
NG_034133.1:g.1183226G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.42G>A	ENSP00000514784.1:p.Trp14Ter
ENST00000342771.10:c.1974G>A MANE Select	ENSP00000344087.4:p.Trp658Ter
ENST00000439256.2:c.72G>A	ENSP00000407058.2:p.Trp24Ter
ENST00000443672.2:c.309G>A	ENSP00000393548.2:p.Trp103Ter
ENST00000449547.6:c.67G>A
ENST00000464768.2:n.642G>A
ENST00000644359.1:c.555G>A	ENSP00000494561.1:p.Trp185Ter
ENST00000644506.1:c.600G>A	ENSP00000496672.1:p.Trp200Ter
ENST00000644939.1:c.1971G>A	ENSP00000496726.1:p.Trp657Ter
ENST00000646136.1:n.285G>A
ENST00000647140.1:c.839G>A
ENST00000342771.8:c.1974G>A	ENSP00000344087.4:p.Trp658Ter
ENST00000406775.6:c.1902G>A	ENSP00000385263.2:p.Trp634Ter
ENST00000439256.1:c.72G>A
ENST00000464768.1:n.640G>A
ENST00000465899.1:n.471G>A
ENST00000498384.5:n.342G>A
ENST00000611706.4:c.1230G>A	ENSP00000478134.1:p.Trp410Ter
ENST00000615871.4:c.1158G>A	ENSP00000479325.1:p.Trp386Ter
NM_001127231.2:c.1902G>A	NP_001120703.1:p.Trp634Ter
NM_015570.3:c.1974G>A	NP_056385.1:p.Trp658Ter
XM_005250257.1:c.621G>A	XP_005250314.1:p.Trp207Ter
XM_011516010.1:c.1995G>A	XP_011514312.1:p.Trp665Ter
XM_011516011.1:c.1992G>A	XP_011514313.1:p.Trp664Ter
XM_011516012.1:c.1929G>A	XP_011514314.1:p.Trp643Ter
XM_011516013.1:c.1923G>A	XP_011514315.1:p.Trp641Ter
XM_011516014.1:c.1893G>A	XP_011514316.1:p.Trp631Ter
XM_011516015.1:c.1731G>A	XP_011514317.1:p.Trp577Ter
XM_011516016.1:c.1704G>A	XP_011514318.1:p.Trp568Ter
XM_011516017.1:c.1521G>A	XP_011514319.1:p.Trp507Ter
XM_011516018.1:c.1494G>A	XP_011514320.1:p.Trp498Ter
XM_005250257.2:c.621G>A	XP_005250314.1:p.Trp207Ter
XM_011516010.2:c.1995G>A	XP_011514312.1:p.Trp665Ter
XM_011516011.2:c.1992G>A	XP_011514313.1:p.Trp664Ter
XM_011516012.2:c.1929G>A	XP_011514314.1:p.Trp643Ter
XM_011516013.2:c.1923G>A	XP_011514315.1:p.Trp641Ter
XM_011516014.2:c.1893G>A	XP_011514316.1:p.Trp631Ter
XM_011516017.2:c.1521G>A	XP_011514319.1:p.Trp507Ter
XM_011516018.2:c.1494G>A	XP_011514320.1:p.Trp498Ter
XM_017011951.2:c.1995G>A	XP_016867440.1:p.Trp665Ter
NM_001127231.3:c.1902G>A	NP_001120703.1:p.Trp634Ter
NM_015570.4:c.1974G>A MANE Select	NP_056385.1:p.Trp658Ter