Canonical Allele Identifier: CA367703685

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69899454C>T , CM000669.2:g.69899454C>T	GRCh38
NC_000007.13:g.69364440C>T , CM000669.1:g.69364440C>T	GRCh37
NC_000007.12:g.69002376C>T	NCBI36
NG_034133.1:g.305536C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015570.4:c.478C>T MANE Select	NP_056385.1:p.Gln160Ter
ENST00000342771.10:c.478C>T MANE Select	ENSP00000344087.4:p.Gln160Ter
NM_001127231.2:c.478C>T	NP_001120703.1:p.Gln160Ter
NM_001127231.3:c.478C>T	NP_001120703.1:p.Gln160Ter
NM_001127232.2:c.478C>T	NP_001120704.1:p.Gln160Ter
NM_001127232.3:c.478C>T	NP_001120704.1:p.Gln160Ter
NM_015570.3:c.478C>T	NP_056385.1:p.Gln160Ter
ENST00000342771.8:c.478C>T	ENSP00000344087.4:p.Gln160Ter
ENST00000403018.2:c.478C>T	ENSP00000385572.2:p.Gln160Ter
ENST00000403018.3:c.478C>T	ENSP00000385572.2:p.Gln160Ter
ENST00000406775.6:c.478C>T	ENSP00000385263.2:p.Gln160Ter
ENST00000476695.1:n.327C>T
ENST00000476695.2:n.333C>T
ENST00000643587.1:c.-24C>T	ENSP00000494680.1:n.-24C>T
ENST00000643936.1:c.257C>T
ENST00000644939.1:c.478C>T	ENSP00000496726.1:p.Gln160Ter
ENST00000656998.1:c.169C>T	ENSP00000499769.1:p.Gln57Ter
XM_011516010.1:c.478C>T	XP_011514312.1:p.Gln160Ter
XM_011516010.2:c.478C>T	XP_011514312.1:p.Gln160Ter
XM_011516011.1:c.478C>T	XP_011514313.1:p.Gln160Ter
XM_011516011.2:c.478C>T	XP_011514313.1:p.Gln160Ter
XM_011516012.1:c.478C>T	XP_011514314.1:p.Gln160Ter
XM_011516012.2:c.478C>T	XP_011514314.1:p.Gln160Ter
XM_011516013.1:c.478C>T	XP_011514315.1:p.Gln160Ter
XM_011516013.2:c.478C>T	XP_011514315.1:p.Gln160Ter
XM_011516014.1:c.478C>T	XP_011514316.1:p.Gln160Ter
XM_011516014.2:c.478C>T	XP_011514316.1:p.Gln160Ter
XM_011516015.1:c.478C>T	XP_011514317.1:p.Gln160Ter
XM_011516016.1:c.187C>T	XP_011514318.1:p.Gln63Ter
XM_011516018.1:c.-24C>T	XP_011514320.1:n.-24C>T
XM_011516018.2:c.-24C>T	XP_011514320.1:n.-24C>T
XM_017011951.2:c.478C>T	XP_016867440.1:p.Gln160Ter