Canonical Allele Identifier: CA367669736

Gene: AUTS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.13T>C	ENSP00000514784.1:p.Trp5Arg
ENST00000342771.10:c.1945T>C MANE Select	ENSP00000344087.4:p.Trp649Arg
ENST00000439256.2:c.43T>C	ENSP00000407058.2:p.Trp15Arg
ENST00000443672.2:c.280T>C	ENSP00000393548.2:p.Trp94Arg
ENST00000449547.6:c.38T>C
ENST00000464768.2:n.613T>C
ENST00000644359.1:c.526T>C	ENSP00000494561.1:p.Trp176Arg
ENST00000644506.1:c.571T>C	ENSP00000496672.1:p.Trp191Arg
ENST00000644939.1:c.1942T>C	ENSP00000496726.1:p.Trp648Arg
ENST00000644949.1:c.276T>C
ENST00000646136.1:n.256T>C
ENST00000647140.1:c.810T>C
ENST00000342771.8:c.1945T>C	ENSP00000344087.4:p.Trp649Arg
ENST00000406775.6:c.1873T>C	ENSP00000385263.2:p.Trp625Arg
ENST00000439256.1:c.43T>C
ENST00000443672.1:c.525T>C
ENST00000464768.1:n.611T>C
ENST00000465899.1:n.442T>C
ENST00000498384.5:n.313T>C
ENST00000611706.4:c.1201T>C	ENSP00000478134.1:p.Trp401Arg
ENST00000615871.4:c.1129T>C	ENSP00000479325.1:p.Trp377Arg
NM_001127231.2:c.1873T>C	NP_001120703.1:p.Trp625Arg
NM_015570.3:c.1945T>C	NP_056385.1:p.Trp649Arg
XM_005250257.1:c.592T>C	XP_005250314.1:p.Trp198Arg
XM_011516010.1:c.1966T>C	XP_011514312.1:p.Trp656Arg
XM_011516011.1:c.1963T>C	XP_011514313.1:p.Trp655Arg
XM_011516012.1:c.1900T>C	XP_011514314.1:p.Trp634Arg
XM_011516013.1:c.1894T>C	XP_011514315.1:p.Trp632Arg
XM_011516014.1:c.1864T>C	XP_011514316.1:p.Trp622Arg
XM_011516015.1:c.1702T>C	XP_011514317.1:p.Trp568Arg
XM_011516016.1:c.1675T>C	XP_011514318.1:p.Trp559Arg
XM_011516017.1:c.1492T>C	XP_011514319.1:p.Trp498Arg
XM_011516018.1:c.1465T>C	XP_011514320.1:p.Trp489Arg
XM_005250257.2:c.592T>C	XP_005250314.1:p.Trp198Arg
XM_011516010.2:c.1966T>C	XP_011514312.1:p.Trp656Arg
XM_011516011.2:c.1963T>C	XP_011514313.1:p.Trp655Arg
XM_011516012.2:c.1900T>C	XP_011514314.1:p.Trp634Arg
XM_011516013.2:c.1894T>C	XP_011514315.1:p.Trp632Arg
XM_011516014.2:c.1864T>C	XP_011514316.1:p.Trp622Arg
XM_011516017.2:c.1492T>C	XP_011514319.1:p.Trp498Arg
XM_011516018.2:c.1465T>C	XP_011514320.1:p.Trp489Arg
XM_017011951.2:c.1966T>C	XP_016867440.1:p.Trp656Arg
NM_001127231.3:c.1873T>C	NP_001120703.1:p.Trp625Arg
NM_015570.4:c.1945T>C MANE Select	NP_056385.1:p.Trp649Arg