Canonical Allele Identifier: CA367669737

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242101T>G (hg19) ; chr7:g.70777115T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777115T>G , CM000669.2:g.70777115T>G	GRCh38
NC_000007.13:g.70242101T>G , CM000669.1:g.70242101T>G	GRCh37
NC_000007.12:g.69880037T>G	NCBI36
NG_034133.1:g.1183197T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.13T>G	ENSP00000514784.1:p.Trp5Gly
ENST00000342771.10:c.1945T>G MANE Select	ENSP00000344087.4:p.Trp649Gly
ENST00000439256.2:c.43T>G	ENSP00000407058.2:p.Trp15Gly
ENST00000443672.2:c.280T>G	ENSP00000393548.2:p.Trp94Gly
ENST00000449547.6:c.38T>G
ENST00000464768.2:n.613T>G
ENST00000644359.1:c.526T>G	ENSP00000494561.1:p.Trp176Gly
ENST00000644506.1:c.571T>G	ENSP00000496672.1:p.Trp191Gly
ENST00000644939.1:c.1942T>G	ENSP00000496726.1:p.Trp648Gly
ENST00000644949.1:c.276T>G
ENST00000646136.1:n.256T>G
ENST00000647140.1:c.810T>G
ENST00000342771.8:c.1945T>G	ENSP00000344087.4:p.Trp649Gly
ENST00000406775.6:c.1873T>G	ENSP00000385263.2:p.Trp625Gly
ENST00000439256.1:c.43T>G
ENST00000443672.1:c.525T>G
ENST00000464768.1:n.611T>G
ENST00000465899.1:n.442T>G
ENST00000498384.5:n.313T>G
ENST00000611706.4:c.1201T>G	ENSP00000478134.1:p.Trp401Gly
ENST00000615871.4:c.1129T>G	ENSP00000479325.1:p.Trp377Gly
NM_001127231.2:c.1873T>G	NP_001120703.1:p.Trp625Gly
NM_015570.3:c.1945T>G	NP_056385.1:p.Trp649Gly
XM_005250257.1:c.592T>G	XP_005250314.1:p.Trp198Gly
XM_011516010.1:c.1966T>G	XP_011514312.1:p.Trp656Gly
XM_011516011.1:c.1963T>G	XP_011514313.1:p.Trp655Gly
XM_011516012.1:c.1900T>G	XP_011514314.1:p.Trp634Gly
XM_011516013.1:c.1894T>G	XP_011514315.1:p.Trp632Gly
XM_011516014.1:c.1864T>G	XP_011514316.1:p.Trp622Gly
XM_011516015.1:c.1702T>G	XP_011514317.1:p.Trp568Gly
XM_011516016.1:c.1675T>G	XP_011514318.1:p.Trp559Gly
XM_011516017.1:c.1492T>G	XP_011514319.1:p.Trp498Gly
XM_011516018.1:c.1465T>G	XP_011514320.1:p.Trp489Gly
XM_005250257.2:c.592T>G	XP_005250314.1:p.Trp198Gly
XM_011516010.2:c.1966T>G	XP_011514312.1:p.Trp656Gly
XM_011516011.2:c.1963T>G	XP_011514313.1:p.Trp655Gly
XM_011516012.2:c.1900T>G	XP_011514314.1:p.Trp634Gly
XM_011516013.2:c.1894T>G	XP_011514315.1:p.Trp632Gly
XM_011516014.2:c.1864T>G	XP_011514316.1:p.Trp622Gly
XM_011516017.2:c.1492T>G	XP_011514319.1:p.Trp498Gly
XM_011516018.2:c.1465T>G	XP_011514320.1:p.Trp489Gly
XM_017011951.2:c.1966T>G	XP_016867440.1:p.Trp656Gly
NM_001127231.3:c.1873T>G	NP_001120703.1:p.Trp625Gly
NM_015570.4:c.1945T>G MANE Select	NP_056385.1:p.Trp649Gly