Canonical Allele Identifier: CA367669827

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242138A>T (hg19) ; chr7:g.70777152A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777152A>T , CM000669.2:g.70777152A>T	GRCh38
NC_000007.13:g.70242138A>T , CM000669.1:g.70242138A>T	GRCh37
NC_000007.12:g.69880074A>T	NCBI36
NG_034133.1:g.1183234A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.50A>T	ENSP00000514784.1:p.Tyr17Phe
ENST00000342771.10:c.1982A>T MANE Select	ENSP00000344087.4:p.Tyr661Phe
ENST00000439256.2:c.80A>T	ENSP00000407058.2:p.Tyr27Phe
ENST00000443672.2:c.317A>T	ENSP00000393548.2:p.Tyr106Phe
ENST00000449547.6:c.75A>T
ENST00000464768.2:n.650A>T
ENST00000644359.1:c.563A>T	ENSP00000494561.1:p.Tyr188Phe
ENST00000644506.1:c.608A>T	ENSP00000496672.1:p.Tyr203Phe
ENST00000644939.1:c.1979A>T	ENSP00000496726.1:p.Tyr660Phe
ENST00000646136.1:n.293A>T
ENST00000647140.1:c.847A>T
ENST00000342771.8:c.1982A>T	ENSP00000344087.4:p.Tyr661Phe
ENST00000406775.6:c.1910A>T	ENSP00000385263.2:p.Tyr637Phe
ENST00000439256.1:c.80A>T
ENST00000464768.1:n.648A>T
ENST00000465899.1:n.479A>T
ENST00000498384.5:n.350A>T
ENST00000611706.4:c.1238A>T	ENSP00000478134.1:p.Tyr413Phe
ENST00000615871.4:c.1166A>T	ENSP00000479325.1:p.Tyr389Phe
NM_001127231.2:c.1910A>T	NP_001120703.1:p.Tyr637Phe
NM_015570.3:c.1982A>T	NP_056385.1:p.Tyr661Phe
XM_005250257.1:c.629A>T	XP_005250314.1:p.Tyr210Phe
XM_011516010.1:c.2003A>T	XP_011514312.1:p.Tyr668Phe
XM_011516011.1:c.2000A>T	XP_011514313.1:p.Tyr667Phe
XM_011516012.1:c.1937A>T	XP_011514314.1:p.Tyr646Phe
XM_011516013.1:c.1931A>T	XP_011514315.1:p.Tyr644Phe
XM_011516014.1:c.1901A>T	XP_011514316.1:p.Tyr634Phe
XM_011516015.1:c.1739A>T	XP_011514317.1:p.Tyr580Phe
XM_011516016.1:c.1712A>T	XP_011514318.1:p.Tyr571Phe
XM_011516017.1:c.1529A>T	XP_011514319.1:p.Tyr510Phe
XM_011516018.1:c.1502A>T	XP_011514320.1:p.Tyr501Phe
XM_005250257.2:c.629A>T	XP_005250314.1:p.Tyr210Phe
XM_011516010.2:c.2003A>T	XP_011514312.1:p.Tyr668Phe
XM_011516011.2:c.2000A>T	XP_011514313.1:p.Tyr667Phe
XM_011516012.2:c.1937A>T	XP_011514314.1:p.Tyr646Phe
XM_011516013.2:c.1931A>T	XP_011514315.1:p.Tyr644Phe
XM_011516014.2:c.1901A>T	XP_011514316.1:p.Tyr634Phe
XM_011516017.2:c.1529A>T	XP_011514319.1:p.Tyr510Phe
XM_011516018.2:c.1502A>T	XP_011514320.1:p.Tyr501Phe
XM_017011951.2:c.2003A>T	XP_016867440.1:p.Tyr668Phe
NM_001127231.3:c.1910A>T	NP_001120703.1:p.Tyr637Phe
NM_015570.4:c.1982A>T MANE Select	NP_056385.1:p.Tyr661Phe