Canonical Allele Identifier: CA367669876

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242158A>G (hg19) ; chr7:g.70777172A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777172A>G , CM000669.2:g.70777172A>G	GRCh38
NC_000007.13:g.70242158A>G , CM000669.1:g.70242158A>G	GRCh37
NC_000007.12:g.69880094A>G	NCBI36
NG_034133.1:g.1183254A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.70A>G	ENSP00000514784.1:p.Lys24Glu
ENST00000342771.10:c.2002A>G MANE Select	ENSP00000344087.4:p.Lys668Glu
ENST00000439256.2:c.100A>G	ENSP00000407058.2:p.Lys34Glu
ENST00000443672.2:c.337A>G	ENSP00000393548.2:p.Lys113Glu
ENST00000449547.6:c.95A>G
ENST00000464768.2:n.670A>G
ENST00000644359.1:c.583A>G	ENSP00000494561.1:p.Lys195Glu
ENST00000644506.1:c.628A>G	ENSP00000496672.1:p.Lys210Glu
ENST00000644939.1:c.1999A>G	ENSP00000496726.1:p.Lys667Glu
ENST00000646136.1:n.313A>G
ENST00000647140.1:c.867A>G
ENST00000342771.8:c.2002A>G	ENSP00000344087.4:p.Lys668Glu
ENST00000406775.6:c.1930A>G	ENSP00000385263.2:p.Lys644Glu
ENST00000439256.1:c.100A>G
ENST00000464768.1:n.668A>G
ENST00000465899.1:n.499A>G
ENST00000498384.5:n.370A>G
ENST00000611706.4:c.1258A>G	ENSP00000478134.1:p.Lys420Glu
ENST00000615871.4:c.1186A>G	ENSP00000479325.1:p.Lys396Glu
NM_001127231.2:c.1930A>G	NP_001120703.1:p.Lys644Glu
NM_015570.3:c.2002A>G	NP_056385.1:p.Lys668Glu
XM_005250257.1:c.649A>G	XP_005250314.1:p.Lys217Glu
XM_011516010.1:c.2023A>G	XP_011514312.1:p.Lys675Glu
XM_011516011.1:c.2020A>G	XP_011514313.1:p.Lys674Glu
XM_011516012.1:c.1957A>G	XP_011514314.1:p.Lys653Glu
XM_011516013.1:c.1951A>G	XP_011514315.1:p.Lys651Glu
XM_011516014.1:c.1921A>G	XP_011514316.1:p.Lys641Glu
XM_011516015.1:c.1759A>G	XP_011514317.1:p.Lys587Glu
XM_011516016.1:c.1732A>G	XP_011514318.1:p.Lys578Glu
XM_011516017.1:c.1549A>G	XP_011514319.1:p.Lys517Glu
XM_011516018.1:c.1522A>G	XP_011514320.1:p.Lys508Glu
XM_005250257.2:c.649A>G	XP_005250314.1:p.Lys217Glu
XM_011516010.2:c.2023A>G	XP_011514312.1:p.Lys675Glu
XM_011516011.2:c.2020A>G	XP_011514313.1:p.Lys674Glu
XM_011516012.2:c.1957A>G	XP_011514314.1:p.Lys653Glu
XM_011516013.2:c.1951A>G	XP_011514315.1:p.Lys651Glu
XM_011516014.2:c.1921A>G	XP_011514316.1:p.Lys641Glu
XM_011516017.2:c.1549A>G	XP_011514319.1:p.Lys517Glu
XM_011516018.2:c.1522A>G	XP_011514320.1:p.Lys508Glu
XM_017011951.2:c.2023A>G	XP_016867440.1:p.Lys675Glu
NM_001127231.3:c.1930A>G	NP_001120703.1:p.Lys644Glu
NM_015570.4:c.2002A>G MANE Select	NP_056385.1:p.Lys668Glu