Canonical Allele Identifier: CA1716166165

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766256C= , CM000669.2:g.70766256C=	GRCh38
NC_000007.13:g.70231242C= , CM000669.1:g.70231242C=	GRCh37
NC_000007.12:g.69869178C=	NCBI36
NG_034133.1:g.1172338C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1611C= MANE Select	ENSP00000344087.4:p.His537=
ENST00000443672.2:c.-55C=	ENSP00000393548.2:n.-55C=
ENST00000644359.1:c.237C=	ENSP00000494561.1:p.His79=
ENST00000644506.1:c.237C=	ENSP00000496672.1:p.His79=
ENST00000644939.1:c.1608C=	ENSP00000496726.1:p.His536=
ENST00000644949.1:c.23C=
ENST00000647140.1:c.455C=
ENST00000656200.1:c.237C=	ENSP00000499508.1:p.His79=
ENST00000342771.8:c.1611C=	ENSP00000344087.4:p.His537=
ENST00000406775.6:c.1611C=	ENSP00000385263.2:p.His537=
ENST00000443672.1:c.236C=
ENST00000481994.1:n.218C=
ENST00000611706.4:c.867C=	ENSP00000478134.1:p.His289=
ENST00000615871.4:c.867C=	ENSP00000479325.1:p.His289=
NM_001127231.2:c.1611C=	NP_001120703.1:p.His537=
NM_015570.3:c.1611C=	NP_056385.1:p.His537=
XM_005250257.1:c.237C=	XP_005250314.1:p.His79=
XM_011516010.1:c.1611C=	XP_011514312.1:p.His537=
XM_011516011.1:c.1608C=	XP_011514313.1:p.His536=
XM_011516012.1:c.1611C=	XP_011514314.1:p.His537=
XM_011516013.1:c.1611C=	XP_011514315.1:p.His537=
XM_011516014.1:c.1611C=	XP_011514316.1:p.His537=
XM_011516015.1:c.1611C=	XP_011514317.1:p.His537=
XM_011516016.1:c.1320C=	XP_011514318.1:p.His440=
XM_011516017.1:c.1137C=	XP_011514319.1:p.His379=
XM_011516018.1:c.1110C=	XP_011514320.1:p.His370=
XM_005250257.2:c.237C=	XP_005250314.1:p.His79=
XM_011516010.2:c.1611C=	XP_011514312.1:p.His537=
XM_011516011.2:c.1608C=	XP_011514313.1:p.His536=
XM_011516012.2:c.1611C=	XP_011514314.1:p.His537=
XM_011516013.2:c.1611C=	XP_011514315.1:p.His537=
XM_011516014.2:c.1611C=	XP_011514316.1:p.His537=
XM_011516017.2:c.1137C=	XP_011514319.1:p.His379=
XM_011516018.2:c.1110C=	XP_011514320.1:p.His370=
XM_017011951.2:c.1611C=	XP_016867440.1:p.His537=
NM_001127231.3:c.1611C=	NP_001120703.1:p.His537=
NM_015570.4:c.1611C= MANE Select	NP_056385.1:p.His537=