Canonical Allele Identifier: CA367669877

Gene: AUTS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.70A>T	ENSP00000514784.1:p.Lys24Ter
ENST00000342771.10:c.2002A>T MANE Select	ENSP00000344087.4:p.Lys668Ter
ENST00000439256.2:c.100A>T	ENSP00000407058.2:p.Lys34Ter
ENST00000443672.2:c.337A>T	ENSP00000393548.2:p.Lys113Ter
ENST00000449547.6:c.95A>T
ENST00000464768.2:n.670A>T
ENST00000644359.1:c.583A>T	ENSP00000494561.1:p.Lys195Ter
ENST00000644506.1:c.628A>T	ENSP00000496672.1:p.Lys210Ter
ENST00000644939.1:c.1999A>T	ENSP00000496726.1:p.Lys667Ter
ENST00000646136.1:n.313A>T
ENST00000647140.1:c.867A>T
ENST00000342771.8:c.2002A>T	ENSP00000344087.4:p.Lys668Ter
ENST00000406775.6:c.1930A>T	ENSP00000385263.2:p.Lys644Ter
ENST00000439256.1:c.100A>T
ENST00000464768.1:n.668A>T
ENST00000465899.1:n.499A>T
ENST00000498384.5:n.370A>T
ENST00000611706.4:c.1258A>T	ENSP00000478134.1:p.Lys420Ter
ENST00000615871.4:c.1186A>T	ENSP00000479325.1:p.Lys396Ter
NM_001127231.2:c.1930A>T	NP_001120703.1:p.Lys644Ter
NM_015570.3:c.2002A>T	NP_056385.1:p.Lys668Ter
XM_005250257.1:c.649A>T	XP_005250314.1:p.Lys217Ter
XM_011516010.1:c.2023A>T	XP_011514312.1:p.Lys675Ter
XM_011516011.1:c.2020A>T	XP_011514313.1:p.Lys674Ter
XM_011516012.1:c.1957A>T	XP_011514314.1:p.Lys653Ter
XM_011516013.1:c.1951A>T	XP_011514315.1:p.Lys651Ter
XM_011516014.1:c.1921A>T	XP_011514316.1:p.Lys641Ter
XM_011516015.1:c.1759A>T	XP_011514317.1:p.Lys587Ter
XM_011516016.1:c.1732A>T	XP_011514318.1:p.Lys578Ter
XM_011516017.1:c.1549A>T	XP_011514319.1:p.Lys517Ter
XM_011516018.1:c.1522A>T	XP_011514320.1:p.Lys508Ter
XM_005250257.2:c.649A>T	XP_005250314.1:p.Lys217Ter
XM_011516010.2:c.2023A>T	XP_011514312.1:p.Lys675Ter
XM_011516011.2:c.2020A>T	XP_011514313.1:p.Lys674Ter
XM_011516012.2:c.1957A>T	XP_011514314.1:p.Lys653Ter
XM_011516013.2:c.1951A>T	XP_011514315.1:p.Lys651Ter
XM_011516014.2:c.1921A>T	XP_011514316.1:p.Lys641Ter
XM_011516017.2:c.1549A>T	XP_011514319.1:p.Lys517Ter
XM_011516018.2:c.1522A>T	XP_011514320.1:p.Lys508Ter
XM_017011951.2:c.2023A>T	XP_016867440.1:p.Lys675Ter
NM_001127231.3:c.1930A>T	NP_001120703.1:p.Lys644Ter
NM_015570.4:c.2002A>T MANE Select	NP_056385.1:p.Lys668Ter