Canonical Allele Identifier: CA367669712

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242090A>G (hg19) ; chr7:g.70777104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777104A>G , CM000669.2:g.70777104A>G	GRCh38
NC_000007.13:g.70242090A>G , CM000669.1:g.70242090A>G	GRCh37
NC_000007.12:g.69880026A>G	NCBI36
NG_034133.1:g.1183186A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.2A>G	ENSP00000514784.1:p.Lys1Arg
ENST00000342771.10:c.1934A>G MANE Select	ENSP00000344087.4:p.Lys645Arg
ENST00000439256.2:c.32A>G	ENSP00000407058.2:p.Lys11Arg
ENST00000443672.2:c.269A>G	ENSP00000393548.2:p.Lys90Arg
ENST00000449547.6:c.27A>G
ENST00000464768.2:n.602A>G
ENST00000644359.1:c.515A>G	ENSP00000494561.1:p.Lys172Arg
ENST00000644506.1:c.560A>G	ENSP00000496672.1:p.Lys187Arg
ENST00000644939.1:c.1931A>G	ENSP00000496726.1:p.Lys644Arg
ENST00000644949.1:c.265A>G
ENST00000646136.1:n.245A>G
ENST00000647140.1:c.799A>G
ENST00000342771.8:c.1934A>G	ENSP00000344087.4:p.Lys645Arg
ENST00000406775.6:c.1862A>G	ENSP00000385263.2:p.Lys621Arg
ENST00000439256.1:c.32A>G
ENST00000443672.1:c.514A>G
ENST00000464768.1:n.600A>G
ENST00000465899.1:n.431A>G
ENST00000498384.5:n.302A>G
ENST00000611706.4:c.1190A>G	ENSP00000478134.1:p.Lys397Arg
ENST00000615871.4:c.1118A>G	ENSP00000479325.1:p.Lys373Arg
NM_001127231.2:c.1862A>G	NP_001120703.1:p.Lys621Arg
NM_015570.3:c.1934A>G	NP_056385.1:p.Lys645Arg
XM_005250257.1:c.581A>G	XP_005250314.1:p.Lys194Arg
XM_011516010.1:c.1955A>G	XP_011514312.1:p.Lys652Arg
XM_011516011.1:c.1952A>G	XP_011514313.1:p.Lys651Arg
XM_011516012.1:c.1889A>G	XP_011514314.1:p.Lys630Arg
XM_011516013.1:c.1883A>G	XP_011514315.1:p.Lys628Arg
XM_011516014.1:c.1853A>G	XP_011514316.1:p.Lys618Arg
XM_011516015.1:c.1691A>G	XP_011514317.1:p.Lys564Arg
XM_011516016.1:c.1664A>G	XP_011514318.1:p.Lys555Arg
XM_011516017.1:c.1481A>G	XP_011514319.1:p.Lys494Arg
XM_011516018.1:c.1454A>G	XP_011514320.1:p.Lys485Arg
XM_005250257.2:c.581A>G	XP_005250314.1:p.Lys194Arg
XM_011516010.2:c.1955A>G	XP_011514312.1:p.Lys652Arg
XM_011516011.2:c.1952A>G	XP_011514313.1:p.Lys651Arg
XM_011516012.2:c.1889A>G	XP_011514314.1:p.Lys630Arg
XM_011516013.2:c.1883A>G	XP_011514315.1:p.Lys628Arg
XM_011516014.2:c.1853A>G	XP_011514316.1:p.Lys618Arg
XM_011516017.2:c.1481A>G	XP_011514319.1:p.Lys494Arg
XM_011516018.2:c.1454A>G	XP_011514320.1:p.Lys485Arg
XM_017011951.2:c.1955A>G	XP_016867440.1:p.Lys652Arg
NM_001127231.3:c.1862A>G	NP_001120703.1:p.Lys621Arg
NM_015570.4:c.1934A>G MANE Select	NP_056385.1:p.Lys645Arg