Canonical Allele Identifier: CA1716160978
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70762943G= , CM000669.2:g.70762943G= GRCh38
NC_000007.13:g.70227929G= , CM000669.1:g.70227929G= GRCh37
NC_000007.12:g.69865865G= NCBI36
NG_034133.1:g.1169025G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342771.10:c.816G= MANE Select ENSP00000344087.4:p.Ser272=
ENST00000443672.2:c.-197-3171G= ENSP00000393548.2:n.-197-3171G=
ENST00000644359.1:c.-556G= ENSP00000494561.1:n.-556G=
ENST00000644506.1:c.-556G= ENSP00000496672.1:n.-556G=
ENST00000644939.1:c.816G= ENSP00000496726.1:p.Ser272=
ENST00000656200.1:c.-559G= ENSP00000499508.1:n.-559G=
ENST00000342771.8:c.816G= ENSP00000344087.4:p.Ser272=
ENST00000406775.6:c.816G= ENSP00000385263.2:p.Ser272=
ENST00000416482.1:c.157G=
ENST00000611706.4:c.72G= ENSP00000478134.1:p.Ser24=
ENST00000615871.4:c.72G= ENSP00000479325.1:p.Ser24=
NM_001127231.2:c.816G= NP_001120703.1:p.Ser272=
NM_015570.3:c.816G= NP_056385.1:p.Ser272=
XM_011516010.1:c.816G= XP_011514312.1:p.Ser272=
XM_011516011.1:c.816G= XP_011514313.1:p.Ser272=
XM_011516012.1:c.816G= XP_011514314.1:p.Ser272=
XM_011516013.1:c.816G= XP_011514315.1:p.Ser272=
XM_011516014.1:c.816G= XP_011514316.1:p.Ser272=
XM_011516015.1:c.816G= XP_011514317.1:p.Ser272=
XM_011516016.1:c.525G= XP_011514318.1:p.Ser175=
XM_011516017.1:c.342G= XP_011514319.1:p.Ser114=
XM_011516018.1:c.315G= XP_011514320.1:p.Ser105=
XM_011516010.2:c.816G= XP_011514312.1:p.Ser272=
XM_011516011.2:c.816G= XP_011514313.1:p.Ser272=
XM_011516012.2:c.816G= XP_011514314.1:p.Ser272=
XM_011516013.2:c.816G= XP_011514315.1:p.Ser272=
XM_011516014.2:c.816G= XP_011514316.1:p.Ser272=
XM_011516017.2:c.342G= XP_011514319.1:p.Ser114=
XM_011516018.2:c.315G= XP_011514320.1:p.Ser105=
XM_017011951.2:c.816G= XP_016867440.1:p.Ser272=
NM_001127231.3:c.816G= NP_001120703.1:p.Ser272=
NM_015570.4:c.816G= MANE Select NP_056385.1:p.Ser272=