Canonical Allele Identifier: CA367669878

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242159A>C (hg19) ; chr7:g.70777173A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777173A>C , CM000669.2:g.70777173A>C	GRCh38
NC_000007.13:g.70242159A>C , CM000669.1:g.70242159A>C	GRCh37
NC_000007.12:g.69880095A>C	NCBI36
NG_034133.1:g.1183255A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.71A>C	ENSP00000514784.1:p.Lys24Thr
ENST00000342771.10:c.2003A>C MANE Select	ENSP00000344087.4:p.Lys668Thr
ENST00000439256.2:c.101A>C	ENSP00000407058.2:p.Lys34Thr
ENST00000443672.2:c.338A>C	ENSP00000393548.2:p.Lys113Thr
ENST00000449547.6:c.96A>C
ENST00000464768.2:n.671A>C
ENST00000644359.1:c.584A>C	ENSP00000494561.1:p.Lys195Thr
ENST00000644506.1:c.629A>C	ENSP00000496672.1:p.Lys210Thr
ENST00000644939.1:c.2000A>C	ENSP00000496726.1:p.Lys667Thr
ENST00000646136.1:n.314A>C
ENST00000647140.1:c.868A>C
ENST00000342771.8:c.2003A>C	ENSP00000344087.4:p.Lys668Thr
ENST00000406775.6:c.1931A>C	ENSP00000385263.2:p.Lys644Thr
ENST00000439256.1:c.101A>C
ENST00000464768.1:n.669A>C
ENST00000465899.1:n.500A>C
ENST00000498384.5:n.371A>C
ENST00000611706.4:c.1259A>C	ENSP00000478134.1:p.Lys420Thr
ENST00000615871.4:c.1187A>C	ENSP00000479325.1:p.Lys396Thr
NM_001127231.2:c.1931A>C	NP_001120703.1:p.Lys644Thr
NM_015570.3:c.2003A>C	NP_056385.1:p.Lys668Thr
XM_005250257.1:c.650A>C	XP_005250314.1:p.Lys217Thr
XM_011516010.1:c.2024A>C	XP_011514312.1:p.Lys675Thr
XM_011516011.1:c.2021A>C	XP_011514313.1:p.Lys674Thr
XM_011516012.1:c.1958A>C	XP_011514314.1:p.Lys653Thr
XM_011516013.1:c.1952A>C	XP_011514315.1:p.Lys651Thr
XM_011516014.1:c.1922A>C	XP_011514316.1:p.Lys641Thr
XM_011516015.1:c.1760A>C	XP_011514317.1:p.Lys587Thr
XM_011516016.1:c.1733A>C	XP_011514318.1:p.Lys578Thr
XM_011516017.1:c.1550A>C	XP_011514319.1:p.Lys517Thr
XM_011516018.1:c.1523A>C	XP_011514320.1:p.Lys508Thr
XM_005250257.2:c.650A>C	XP_005250314.1:p.Lys217Thr
XM_011516010.2:c.2024A>C	XP_011514312.1:p.Lys675Thr
XM_011516011.2:c.2021A>C	XP_011514313.1:p.Lys674Thr
XM_011516012.2:c.1958A>C	XP_011514314.1:p.Lys653Thr
XM_011516013.2:c.1952A>C	XP_011514315.1:p.Lys651Thr
XM_011516014.2:c.1922A>C	XP_011514316.1:p.Lys641Thr
XM_011516017.2:c.1550A>C	XP_011514319.1:p.Lys517Thr
XM_011516018.2:c.1523A>C	XP_011514320.1:p.Lys508Thr
XM_017011951.2:c.2024A>C	XP_016867440.1:p.Lys675Thr
NM_001127231.3:c.1931A>C	NP_001120703.1:p.Lys644Thr
NM_015570.4:c.2003A>C MANE Select	NP_056385.1:p.Lys668Thr