Canonical Allele Identifier: CA367669806
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777144G>C , CM000669.2:g.70777144G>C GRCh38
NC_000007.13:g.70242130G>C , CM000669.1:g.70242130G>C GRCh37
NC_000007.12:g.69880066G>C NCBI36
NG_034133.1:g.1183226G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.42G>C ENSP00000514784.1:p.Trp14Cys
ENST00000342771.10:c.1974G>C MANE Select ENSP00000344087.4:p.Trp658Cys
ENST00000439256.2:c.72G>C ENSP00000407058.2:p.Trp24Cys
ENST00000443672.2:c.309G>C ENSP00000393548.2:p.Trp103Cys
ENST00000449547.6:c.67G>C
ENST00000464768.2:n.642G>C
ENST00000644359.1:c.555G>C ENSP00000494561.1:p.Trp185Cys
ENST00000644506.1:c.600G>C ENSP00000496672.1:p.Trp200Cys
ENST00000644939.1:c.1971G>C ENSP00000496726.1:p.Trp657Cys
ENST00000646136.1:n.285G>C
ENST00000647140.1:c.839G>C
ENST00000342771.8:c.1974G>C ENSP00000344087.4:p.Trp658Cys
ENST00000406775.6:c.1902G>C ENSP00000385263.2:p.Trp634Cys
ENST00000439256.1:c.72G>C
ENST00000464768.1:n.640G>C
ENST00000465899.1:n.471G>C
ENST00000498384.5:n.342G>C
ENST00000611706.4:c.1230G>C ENSP00000478134.1:p.Trp410Cys
ENST00000615871.4:c.1158G>C ENSP00000479325.1:p.Trp386Cys
NM_001127231.2:c.1902G>C NP_001120703.1:p.Trp634Cys
NM_015570.3:c.1974G>C NP_056385.1:p.Trp658Cys
XM_005250257.1:c.621G>C XP_005250314.1:p.Trp207Cys
XM_011516010.1:c.1995G>C XP_011514312.1:p.Trp665Cys
XM_011516011.1:c.1992G>C XP_011514313.1:p.Trp664Cys
XM_011516012.1:c.1929G>C XP_011514314.1:p.Trp643Cys
XM_011516013.1:c.1923G>C XP_011514315.1:p.Trp641Cys
XM_011516014.1:c.1893G>C XP_011514316.1:p.Trp631Cys
XM_011516015.1:c.1731G>C XP_011514317.1:p.Trp577Cys
XM_011516016.1:c.1704G>C XP_011514318.1:p.Trp568Cys
XM_011516017.1:c.1521G>C XP_011514319.1:p.Trp507Cys
XM_011516018.1:c.1494G>C XP_011514320.1:p.Trp498Cys
XM_005250257.2:c.621G>C XP_005250314.1:p.Trp207Cys
XM_011516010.2:c.1995G>C XP_011514312.1:p.Trp665Cys
XM_011516011.2:c.1992G>C XP_011514313.1:p.Trp664Cys
XM_011516012.2:c.1929G>C XP_011514314.1:p.Trp643Cys
XM_011516013.2:c.1923G>C XP_011514315.1:p.Trp641Cys
XM_011516014.2:c.1893G>C XP_011514316.1:p.Trp631Cys
XM_011516017.2:c.1521G>C XP_011514319.1:p.Trp507Cys
XM_011516018.2:c.1494G>C XP_011514320.1:p.Trp498Cys
XM_017011951.2:c.1995G>C XP_016867440.1:p.Trp665Cys
NM_001127231.3:c.1902G>C NP_001120703.1:p.Trp634Cys
NM_015570.4:c.1974G>C MANE Select NP_056385.1:p.Trp658Cys