Canonical Allele Identifier: CA1716160997

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70762970C= , CM000669.2:g.70762970C=	GRCh38
NC_000007.13:g.70227956C= , CM000669.1:g.70227956C=	GRCh37
NC_000007.12:g.69865892C=	NCBI36
NG_034133.1:g.1169052C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.843C= MANE Select	ENSP00000344087.4:p.Ser281=
ENST00000443672.2:c.-197-3144C=	ENSP00000393548.2:n.-197-3144C=
ENST00000644359.1:c.-529C=	ENSP00000494561.1:n.-529C=
ENST00000644506.1:c.-529C=	ENSP00000496672.1:n.-529C=
ENST00000644939.1:c.843C=	ENSP00000496726.1:p.Ser281=
ENST00000656200.1:c.-532C=	ENSP00000499508.1:n.-532C=
ENST00000342771.8:c.843C=	ENSP00000344087.4:p.Ser281=
ENST00000406775.6:c.843C=	ENSP00000385263.2:p.Ser281=
ENST00000416482.1:c.184C=
ENST00000611706.4:c.99C=	ENSP00000478134.1:p.Ser33=
ENST00000615871.4:c.99C=	ENSP00000479325.1:p.Ser33=
NM_001127231.2:c.843C=	NP_001120703.1:p.Ser281=
NM_015570.3:c.843C=	NP_056385.1:p.Ser281=
XM_011516010.1:c.843C=	XP_011514312.1:p.Ser281=
XM_011516011.1:c.843C=	XP_011514313.1:p.Ser281=
XM_011516012.1:c.843C=	XP_011514314.1:p.Ser281=
XM_011516013.1:c.843C=	XP_011514315.1:p.Ser281=
XM_011516014.1:c.843C=	XP_011514316.1:p.Ser281=
XM_011516015.1:c.843C=	XP_011514317.1:p.Ser281=
XM_011516016.1:c.552C=	XP_011514318.1:p.Ser184=
XM_011516017.1:c.369C=	XP_011514319.1:p.Ser123=
XM_011516018.1:c.342C=	XP_011514320.1:p.Ser114=
XM_011516010.2:c.843C=	XP_011514312.1:p.Ser281=
XM_011516011.2:c.843C=	XP_011514313.1:p.Ser281=
XM_011516012.2:c.843C=	XP_011514314.1:p.Ser281=
XM_011516013.2:c.843C=	XP_011514315.1:p.Ser281=
XM_011516014.2:c.843C=	XP_011514316.1:p.Ser281=
XM_011516017.2:c.369C=	XP_011514319.1:p.Ser123=
XM_011516018.2:c.342C=	XP_011514320.1:p.Ser114=
XM_017011951.2:c.843C=	XP_016867440.1:p.Ser281=
NM_001127231.3:c.843C=	NP_001120703.1:p.Ser281=
NM_015570.4:c.843C= MANE Select	NP_056385.1:p.Ser281=