Canonical Allele Identifier: CA455803138

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242139C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.51C>T	ENSP00000514784.1:p.Tyr17=
ENST00000342771.10:c.1983C>T MANE Select	ENSP00000344087.4:p.Tyr661=
ENST00000439256.2:c.81C>T	ENSP00000407058.2:p.Tyr27=
ENST00000443672.2:c.318C>T	ENSP00000393548.2:p.Tyr106=
ENST00000449547.6:c.76C>T
ENST00000464768.2:n.651C>T
ENST00000644359.1:c.564C>T	ENSP00000494561.1:p.Tyr188=
ENST00000644506.1:c.609C>T	ENSP00000496672.1:p.Tyr203=
ENST00000644939.1:c.1980C>T	ENSP00000496726.1:p.Tyr660=
ENST00000646136.1:n.294C>T
ENST00000647140.1:c.848C>T
ENST00000342771.8:c.1983C>T	ENSP00000344087.4:p.Tyr661=
ENST00000406775.6:c.1911C>T	ENSP00000385263.2:p.Tyr637=
ENST00000439256.1:c.81C>T
ENST00000464768.1:n.649C>T
ENST00000465899.1:n.480C>T
ENST00000498384.5:n.351C>T
ENST00000611706.4:c.1239C>T	ENSP00000478134.1:p.Tyr413=
ENST00000615871.4:c.1167C>T	ENSP00000479325.1:p.Tyr389=
NM_001127231.2:c.1911C>T	NP_001120703.1:p.Tyr637=
NM_015570.3:c.1983C>T	NP_056385.1:p.Tyr661=
XM_005250257.1:c.630C>T	XP_005250314.1:p.Tyr210=
XM_011516010.1:c.2004C>T	XP_011514312.1:p.Tyr668=
XM_011516011.1:c.2001C>T	XP_011514313.1:p.Tyr667=
XM_011516012.1:c.1938C>T	XP_011514314.1:p.Tyr646=
XM_011516013.1:c.1932C>T	XP_011514315.1:p.Tyr644=
XM_011516014.1:c.1902C>T	XP_011514316.1:p.Tyr634=
XM_011516015.1:c.1740C>T	XP_011514317.1:p.Tyr580=
XM_011516016.1:c.1713C>T	XP_011514318.1:p.Tyr571=
XM_011516017.1:c.1530C>T	XP_011514319.1:p.Tyr510=
XM_011516018.1:c.1503C>T	XP_011514320.1:p.Tyr501=
XM_005250257.2:c.630C>T	XP_005250314.1:p.Tyr210=
XM_011516010.2:c.2004C>T	XP_011514312.1:p.Tyr668=
XM_011516011.2:c.2001C>T	XP_011514313.1:p.Tyr667=
XM_011516012.2:c.1938C>T	XP_011514314.1:p.Tyr646=
XM_011516013.2:c.1932C>T	XP_011514315.1:p.Tyr644=
XM_011516014.2:c.1902C>T	XP_011514316.1:p.Tyr634=
XM_011516017.2:c.1530C>T	XP_011514319.1:p.Tyr510=
XM_011516018.2:c.1503C>T	XP_011514320.1:p.Tyr501=
XM_017011951.2:c.2004C>T	XP_016867440.1:p.Tyr668=
NM_001127231.3:c.1911C>T	NP_001120703.1:p.Tyr637=
NM_015570.4:c.1983C>T MANE Select	NP_056385.1:p.Tyr661=