Canonical Allele Identifier: CA367669829

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242139C>G (hg19) ; chr7:g.70777153C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777153C>G , CM000669.2:g.70777153C>G	GRCh38
NC_000007.13:g.70242139C>G , CM000669.1:g.70242139C>G	GRCh37
NC_000007.12:g.69880075C>G	NCBI36
NG_034133.1:g.1183235C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.51C>G	ENSP00000514784.1:p.Tyr17Ter
ENST00000342771.10:c.1983C>G MANE Select	ENSP00000344087.4:p.Tyr661Ter
ENST00000439256.2:c.81C>G	ENSP00000407058.2:p.Tyr27Ter
ENST00000443672.2:c.318C>G	ENSP00000393548.2:p.Tyr106Ter
ENST00000449547.6:c.76C>G
ENST00000464768.2:n.651C>G
ENST00000644359.1:c.564C>G	ENSP00000494561.1:p.Tyr188Ter
ENST00000644506.1:c.609C>G	ENSP00000496672.1:p.Tyr203Ter
ENST00000644939.1:c.1980C>G	ENSP00000496726.1:p.Tyr660Ter
ENST00000646136.1:n.294C>G
ENST00000647140.1:c.848C>G
ENST00000342771.8:c.1983C>G	ENSP00000344087.4:p.Tyr661Ter
ENST00000406775.6:c.1911C>G	ENSP00000385263.2:p.Tyr637Ter
ENST00000439256.1:c.81C>G
ENST00000464768.1:n.649C>G
ENST00000465899.1:n.480C>G
ENST00000498384.5:n.351C>G
ENST00000611706.4:c.1239C>G	ENSP00000478134.1:p.Tyr413Ter
ENST00000615871.4:c.1167C>G	ENSP00000479325.1:p.Tyr389Ter
NM_001127231.2:c.1911C>G	NP_001120703.1:p.Tyr637Ter
NM_015570.3:c.1983C>G	NP_056385.1:p.Tyr661Ter
XM_005250257.1:c.630C>G	XP_005250314.1:p.Tyr210Ter
XM_011516010.1:c.2004C>G	XP_011514312.1:p.Tyr668Ter
XM_011516011.1:c.2001C>G	XP_011514313.1:p.Tyr667Ter
XM_011516012.1:c.1938C>G	XP_011514314.1:p.Tyr646Ter
XM_011516013.1:c.1932C>G	XP_011514315.1:p.Tyr644Ter
XM_011516014.1:c.1902C>G	XP_011514316.1:p.Tyr634Ter
XM_011516015.1:c.1740C>G	XP_011514317.1:p.Tyr580Ter
XM_011516016.1:c.1713C>G	XP_011514318.1:p.Tyr571Ter
XM_011516017.1:c.1530C>G	XP_011514319.1:p.Tyr510Ter
XM_011516018.1:c.1503C>G	XP_011514320.1:p.Tyr501Ter
XM_005250257.2:c.630C>G	XP_005250314.1:p.Tyr210Ter
XM_011516010.2:c.2004C>G	XP_011514312.1:p.Tyr668Ter
XM_011516011.2:c.2001C>G	XP_011514313.1:p.Tyr667Ter
XM_011516012.2:c.1938C>G	XP_011514314.1:p.Tyr646Ter
XM_011516013.2:c.1932C>G	XP_011514315.1:p.Tyr644Ter
XM_011516014.2:c.1902C>G	XP_011514316.1:p.Tyr634Ter
XM_011516017.2:c.1530C>G	XP_011514319.1:p.Tyr510Ter
XM_011516018.2:c.1503C>G	XP_011514320.1:p.Tyr501Ter
XM_017011951.2:c.2004C>G	XP_016867440.1:p.Tyr668Ter
NM_001127231.3:c.1911C>G	NP_001120703.1:p.Tyr637Ter
NM_015570.4:c.1983C>G MANE Select	NP_056385.1:p.Tyr661Ter