Canonical Allele Identifier: CA367669826

Gene: AUTS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.50A>C	ENSP00000514784.1:p.Tyr17Ser
ENST00000342771.10:c.1982A>C MANE Select	ENSP00000344087.4:p.Tyr661Ser
ENST00000439256.2:c.80A>C	ENSP00000407058.2:p.Tyr27Ser
ENST00000443672.2:c.317A>C	ENSP00000393548.2:p.Tyr106Ser
ENST00000449547.6:c.75A>C
ENST00000464768.2:n.650A>C
ENST00000644359.1:c.563A>C	ENSP00000494561.1:p.Tyr188Ser
ENST00000644506.1:c.608A>C	ENSP00000496672.1:p.Tyr203Ser
ENST00000644939.1:c.1979A>C	ENSP00000496726.1:p.Tyr660Ser
ENST00000646136.1:n.293A>C
ENST00000647140.1:c.847A>C
ENST00000342771.8:c.1982A>C	ENSP00000344087.4:p.Tyr661Ser
ENST00000406775.6:c.1910A>C	ENSP00000385263.2:p.Tyr637Ser
ENST00000439256.1:c.80A>C
ENST00000464768.1:n.648A>C
ENST00000465899.1:n.479A>C
ENST00000498384.5:n.350A>C
ENST00000611706.4:c.1238A>C	ENSP00000478134.1:p.Tyr413Ser
ENST00000615871.4:c.1166A>C	ENSP00000479325.1:p.Tyr389Ser
NM_001127231.2:c.1910A>C	NP_001120703.1:p.Tyr637Ser
NM_015570.3:c.1982A>C	NP_056385.1:p.Tyr661Ser
XM_005250257.1:c.629A>C	XP_005250314.1:p.Tyr210Ser
XM_011516010.1:c.2003A>C	XP_011514312.1:p.Tyr668Ser
XM_011516011.1:c.2000A>C	XP_011514313.1:p.Tyr667Ser
XM_011516012.1:c.1937A>C	XP_011514314.1:p.Tyr646Ser
XM_011516013.1:c.1931A>C	XP_011514315.1:p.Tyr644Ser
XM_011516014.1:c.1901A>C	XP_011514316.1:p.Tyr634Ser
XM_011516015.1:c.1739A>C	XP_011514317.1:p.Tyr580Ser
XM_011516016.1:c.1712A>C	XP_011514318.1:p.Tyr571Ser
XM_011516017.1:c.1529A>C	XP_011514319.1:p.Tyr510Ser
XM_011516018.1:c.1502A>C	XP_011514320.1:p.Tyr501Ser
XM_005250257.2:c.629A>C	XP_005250314.1:p.Tyr210Ser
XM_011516010.2:c.2003A>C	XP_011514312.1:p.Tyr668Ser
XM_011516011.2:c.2000A>C	XP_011514313.1:p.Tyr667Ser
XM_011516012.2:c.1937A>C	XP_011514314.1:p.Tyr646Ser
XM_011516013.2:c.1931A>C	XP_011514315.1:p.Tyr644Ser
XM_011516014.2:c.1901A>C	XP_011514316.1:p.Tyr634Ser
XM_011516017.2:c.1529A>C	XP_011514319.1:p.Tyr510Ser
XM_011516018.2:c.1502A>C	XP_011514320.1:p.Tyr501Ser
XM_017011951.2:c.2003A>C	XP_016867440.1:p.Tyr668Ser
NM_001127231.3:c.1910A>C	NP_001120703.1:p.Tyr637Ser
NM_015570.4:c.1982A>C MANE Select	NP_056385.1:p.Tyr661Ser