Canonical Allele Identifier: CA367669867

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242153A>T (hg19) ; chr7:g.70777167A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777167A>T , CM000669.2:g.70777167A>T	GRCh38
NC_000007.13:g.70242153A>T , CM000669.1:g.70242153A>T	GRCh37
NC_000007.12:g.69880089A>T	NCBI36
NG_034133.1:g.1183249A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.65A>T	ENSP00000514784.1:p.Lys22Ile
ENST00000342771.10:c.1997A>T MANE Select	ENSP00000344087.4:p.Lys666Ile
ENST00000439256.2:c.95A>T	ENSP00000407058.2:p.Lys32Ile
ENST00000443672.2:c.332A>T	ENSP00000393548.2:p.Lys111Ile
ENST00000449547.6:c.90A>T
ENST00000464768.2:n.665A>T
ENST00000644359.1:c.578A>T	ENSP00000494561.1:p.Lys193Ile
ENST00000644506.1:c.623A>T	ENSP00000496672.1:p.Lys208Ile
ENST00000644939.1:c.1994A>T	ENSP00000496726.1:p.Lys665Ile
ENST00000646136.1:n.308A>T
ENST00000647140.1:c.862A>T
ENST00000342771.8:c.1997A>T	ENSP00000344087.4:p.Lys666Ile
ENST00000406775.6:c.1925A>T	ENSP00000385263.2:p.Lys642Ile
ENST00000439256.1:c.95A>T
ENST00000464768.1:n.663A>T
ENST00000465899.1:n.494A>T
ENST00000498384.5:n.365A>T
ENST00000611706.4:c.1253A>T	ENSP00000478134.1:p.Lys418Ile
ENST00000615871.4:c.1181A>T	ENSP00000479325.1:p.Lys394Ile
NM_001127231.2:c.1925A>T	NP_001120703.1:p.Lys642Ile
NM_015570.3:c.1997A>T	NP_056385.1:p.Lys666Ile
XM_005250257.1:c.644A>T	XP_005250314.1:p.Lys215Ile
XM_011516010.1:c.2018A>T	XP_011514312.1:p.Lys673Ile
XM_011516011.1:c.2015A>T	XP_011514313.1:p.Lys672Ile
XM_011516012.1:c.1952A>T	XP_011514314.1:p.Lys651Ile
XM_011516013.1:c.1946A>T	XP_011514315.1:p.Lys649Ile
XM_011516014.1:c.1916A>T	XP_011514316.1:p.Lys639Ile
XM_011516015.1:c.1754A>T	XP_011514317.1:p.Lys585Ile
XM_011516016.1:c.1727A>T	XP_011514318.1:p.Lys576Ile
XM_011516017.1:c.1544A>T	XP_011514319.1:p.Lys515Ile
XM_011516018.1:c.1517A>T	XP_011514320.1:p.Lys506Ile
XM_005250257.2:c.644A>T	XP_005250314.1:p.Lys215Ile
XM_011516010.2:c.2018A>T	XP_011514312.1:p.Lys673Ile
XM_011516011.2:c.2015A>T	XP_011514313.1:p.Lys672Ile
XM_011516012.2:c.1952A>T	XP_011514314.1:p.Lys651Ile
XM_011516013.2:c.1946A>T	XP_011514315.1:p.Lys649Ile
XM_011516014.2:c.1916A>T	XP_011514316.1:p.Lys639Ile
XM_011516017.2:c.1544A>T	XP_011514319.1:p.Lys515Ile
XM_011516018.2:c.1517A>T	XP_011514320.1:p.Lys506Ile
XM_017011951.2:c.2018A>T	XP_016867440.1:p.Lys673Ile
NM_001127231.3:c.1925A>T	NP_001120703.1:p.Lys642Ile
NM_015570.4:c.1997A>T MANE Select	NP_056385.1:p.Lys666Ile