Canonical Allele Identifier: CA1716161047

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70762984A= , CM000669.2:g.70762984A=	GRCh38
NC_000007.13:g.70227970A= , CM000669.1:g.70227970A=	GRCh37
NC_000007.12:g.69865906A=	NCBI36
NG_034133.1:g.1169066A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.857A= MANE Select	ENSP00000344087.4:p.Lys286=
ENST00000443672.2:c.-197-3130A=	ENSP00000393548.2:n.-197-3130A=
ENST00000644359.1:c.-515A=	ENSP00000494561.1:n.-515A=
ENST00000644506.1:c.-515A=	ENSP00000496672.1:n.-515A=
ENST00000644939.1:c.857A=	ENSP00000496726.1:p.Lys286=
ENST00000656200.1:c.-518A=	ENSP00000499508.1:n.-518A=
ENST00000342771.8:c.857A=	ENSP00000344087.4:p.Lys286=
ENST00000406775.6:c.857A=	ENSP00000385263.2:p.Lys286=
ENST00000416482.1:c.198A=
ENST00000611706.4:c.113A=	ENSP00000478134.1:p.Lys38=
ENST00000615871.4:c.113A=	ENSP00000479325.1:p.Lys38=
NM_001127231.2:c.857A=	NP_001120703.1:p.Lys286=
NM_015570.3:c.857A=	NP_056385.1:p.Lys286=
XM_011516010.1:c.857A=	XP_011514312.1:p.Lys286=
XM_011516011.1:c.857A=	XP_011514313.1:p.Lys286=
XM_011516012.1:c.857A=	XP_011514314.1:p.Lys286=
XM_011516013.1:c.857A=	XP_011514315.1:p.Lys286=
XM_011516014.1:c.857A=	XP_011514316.1:p.Lys286=
XM_011516015.1:c.857A=	XP_011514317.1:p.Lys286=
XM_011516016.1:c.566A=	XP_011514318.1:p.Lys189=
XM_011516017.1:c.383A=	XP_011514319.1:p.Lys128=
XM_011516018.1:c.356A=	XP_011514320.1:p.Lys119=
XM_011516010.2:c.857A=	XP_011514312.1:p.Lys286=
XM_011516011.2:c.857A=	XP_011514313.1:p.Lys286=
XM_011516012.2:c.857A=	XP_011514314.1:p.Lys286=
XM_011516013.2:c.857A=	XP_011514315.1:p.Lys286=
XM_011516014.2:c.857A=	XP_011514316.1:p.Lys286=
XM_011516017.2:c.383A=	XP_011514319.1:p.Lys128=
XM_011516018.2:c.356A=	XP_011514320.1:p.Lys119=
XM_017011951.2:c.857A=	XP_016867440.1:p.Lys286=
NM_001127231.3:c.857A=	NP_001120703.1:p.Lys286=
NM_015570.4:c.857A= MANE Select	NP_056385.1:p.Lys286=