Canonical Allele Identifier: CA367669825

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70777152-A-G
• MyVariant Identifiers: chr7:g.70242138A>G (hg19) ; chr7:g.70777152A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.50A>G	ENSP00000514784.1:p.Tyr17Cys
ENST00000342771.10:c.1982A>G MANE Select	ENSP00000344087.4:p.Tyr661Cys
ENST00000439256.2:c.80A>G	ENSP00000407058.2:p.Tyr27Cys
ENST00000443672.2:c.317A>G	ENSP00000393548.2:p.Tyr106Cys
ENST00000449547.6:c.75A>G
ENST00000464768.2:n.650A>G
ENST00000644359.1:c.563A>G	ENSP00000494561.1:p.Tyr188Cys
ENST00000644506.1:c.608A>G	ENSP00000496672.1:p.Tyr203Cys
ENST00000644939.1:c.1979A>G	ENSP00000496726.1:p.Tyr660Cys
ENST00000646136.1:n.293A>G
ENST00000647140.1:c.847A>G
ENST00000342771.8:c.1982A>G	ENSP00000344087.4:p.Tyr661Cys
ENST00000406775.6:c.1910A>G	ENSP00000385263.2:p.Tyr637Cys
ENST00000439256.1:c.80A>G
ENST00000464768.1:n.648A>G
ENST00000465899.1:n.479A>G
ENST00000498384.5:n.350A>G
ENST00000611706.4:c.1238A>G	ENSP00000478134.1:p.Tyr413Cys
ENST00000615871.4:c.1166A>G	ENSP00000479325.1:p.Tyr389Cys
NM_001127231.2:c.1910A>G	NP_001120703.1:p.Tyr637Cys
NM_015570.3:c.1982A>G	NP_056385.1:p.Tyr661Cys
XM_005250257.1:c.629A>G	XP_005250314.1:p.Tyr210Cys
XM_011516010.1:c.2003A>G	XP_011514312.1:p.Tyr668Cys
XM_011516011.1:c.2000A>G	XP_011514313.1:p.Tyr667Cys
XM_011516012.1:c.1937A>G	XP_011514314.1:p.Tyr646Cys
XM_011516013.1:c.1931A>G	XP_011514315.1:p.Tyr644Cys
XM_011516014.1:c.1901A>G	XP_011514316.1:p.Tyr634Cys
XM_011516015.1:c.1739A>G	XP_011514317.1:p.Tyr580Cys
XM_011516016.1:c.1712A>G	XP_011514318.1:p.Tyr571Cys
XM_011516017.1:c.1529A>G	XP_011514319.1:p.Tyr510Cys
XM_011516018.1:c.1502A>G	XP_011514320.1:p.Tyr501Cys
XM_005250257.2:c.629A>G	XP_005250314.1:p.Tyr210Cys
XM_011516010.2:c.2003A>G	XP_011514312.1:p.Tyr668Cys
XM_011516011.2:c.2000A>G	XP_011514313.1:p.Tyr667Cys
XM_011516012.2:c.1937A>G	XP_011514314.1:p.Tyr646Cys
XM_011516013.2:c.1931A>G	XP_011514315.1:p.Tyr644Cys
XM_011516014.2:c.1901A>G	XP_011514316.1:p.Tyr634Cys
XM_011516017.2:c.1529A>G	XP_011514319.1:p.Tyr510Cys
XM_011516018.2:c.1502A>G	XP_011514320.1:p.Tyr501Cys
XM_017011951.2:c.2003A>G	XP_016867440.1:p.Tyr668Cys
NM_001127231.3:c.1910A>G	NP_001120703.1:p.Tyr637Cys
NM_015570.4:c.1982A>G MANE Select	NP_056385.1:p.Tyr661Cys