Canonical Allele Identifier: CA367669731

Gene: AUTS2

Linked Data

• dbSNP Id: rs1790754247
• MyVariant Identifiers: chr7:g.70242099A>G (hg19) ; chr7:g.70777113A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777113A>G , CM000669.2:g.70777113A>G	GRCh38
NC_000007.13:g.70242099A>G , CM000669.1:g.70242099A>G	GRCh37
NC_000007.12:g.69880035A>G	NCBI36
NG_034133.1:g.1183195A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.11A>G	ENSP00000514784.1:p.Lys4Arg
ENST00000342771.10:c.1943A>G MANE Select	ENSP00000344087.4:p.Lys648Arg
ENST00000439256.2:c.41A>G	ENSP00000407058.2:p.Lys14Arg
ENST00000443672.2:c.278A>G	ENSP00000393548.2:p.Lys93Arg
ENST00000449547.6:c.36A>G
ENST00000464768.2:n.611A>G
ENST00000644359.1:c.524A>G	ENSP00000494561.1:p.Lys175Arg
ENST00000644506.1:c.569A>G	ENSP00000496672.1:p.Lys190Arg
ENST00000644939.1:c.1940A>G	ENSP00000496726.1:p.Lys647Arg
ENST00000644949.1:c.274A>G
ENST00000646136.1:n.254A>G
ENST00000647140.1:c.808A>G
ENST00000342771.8:c.1943A>G	ENSP00000344087.4:p.Lys648Arg
ENST00000406775.6:c.1871A>G	ENSP00000385263.2:p.Lys624Arg
ENST00000439256.1:c.41A>G
ENST00000443672.1:c.523A>G
ENST00000464768.1:n.609A>G
ENST00000465899.1:n.440A>G
ENST00000498384.5:n.311A>G
ENST00000611706.4:c.1199A>G	ENSP00000478134.1:p.Lys400Arg
ENST00000615871.4:c.1127A>G	ENSP00000479325.1:p.Lys376Arg
NM_001127231.2:c.1871A>G	NP_001120703.1:p.Lys624Arg
NM_015570.3:c.1943A>G	NP_056385.1:p.Lys648Arg
XM_005250257.1:c.590A>G	XP_005250314.1:p.Lys197Arg
XM_011516010.1:c.1964A>G	XP_011514312.1:p.Lys655Arg
XM_011516011.1:c.1961A>G	XP_011514313.1:p.Lys654Arg
XM_011516012.1:c.1898A>G	XP_011514314.1:p.Lys633Arg
XM_011516013.1:c.1892A>G	XP_011514315.1:p.Lys631Arg
XM_011516014.1:c.1862A>G	XP_011514316.1:p.Lys621Arg
XM_011516015.1:c.1700A>G	XP_011514317.1:p.Lys567Arg
XM_011516016.1:c.1673A>G	XP_011514318.1:p.Lys558Arg
XM_011516017.1:c.1490A>G	XP_011514319.1:p.Lys497Arg
XM_011516018.1:c.1463A>G	XP_011514320.1:p.Lys488Arg
XM_005250257.2:c.590A>G	XP_005250314.1:p.Lys197Arg
XM_011516010.2:c.1964A>G	XP_011514312.1:p.Lys655Arg
XM_011516011.2:c.1961A>G	XP_011514313.1:p.Lys654Arg
XM_011516012.2:c.1898A>G	XP_011514314.1:p.Lys633Arg
XM_011516013.2:c.1892A>G	XP_011514315.1:p.Lys631Arg
XM_011516014.2:c.1862A>G	XP_011514316.1:p.Lys621Arg
XM_011516017.2:c.1490A>G	XP_011514319.1:p.Lys497Arg
XM_011516018.2:c.1463A>G	XP_011514320.1:p.Lys488Arg
XM_017011951.2:c.1964A>G	XP_016867440.1:p.Lys655Arg
NM_001127231.3:c.1871A>G	NP_001120703.1:p.Lys624Arg
NM_015570.4:c.1943A>G MANE Select	NP_056385.1:p.Lys648Arg