Canonical Allele Identifier: CA367669811
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777146A>C , CM000669.2:g.70777146A>C GRCh38
NC_000007.13:g.70242132A>C , CM000669.1:g.70242132A>C GRCh37
NC_000007.12:g.69880068A>C NCBI36
NG_034133.1:g.1183228A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.44A>C ENSP00000514784.1:p.Gln15Pro
ENST00000342771.10:c.1976A>C MANE Select ENSP00000344087.4:p.Gln659Pro
ENST00000439256.2:c.74A>C ENSP00000407058.2:p.Gln25Pro
ENST00000443672.2:c.311A>C ENSP00000393548.2:p.Gln104Pro
ENST00000449547.6:c.69A>C
ENST00000464768.2:n.644A>C
ENST00000644359.1:c.557A>C ENSP00000494561.1:p.Gln186Pro
ENST00000644506.1:c.602A>C ENSP00000496672.1:p.Gln201Pro
ENST00000644939.1:c.1973A>C ENSP00000496726.1:p.Gln658Pro
ENST00000646136.1:n.287A>C
ENST00000647140.1:c.841A>C
ENST00000342771.8:c.1976A>C ENSP00000344087.4:p.Gln659Pro
ENST00000406775.6:c.1904A>C ENSP00000385263.2:p.Gln635Pro
ENST00000439256.1:c.74A>C
ENST00000464768.1:n.642A>C
ENST00000465899.1:n.473A>C
ENST00000498384.5:n.344A>C
ENST00000611706.4:c.1232A>C ENSP00000478134.1:p.Gln411Pro
ENST00000615871.4:c.1160A>C ENSP00000479325.1:p.Gln387Pro
NM_001127231.2:c.1904A>C NP_001120703.1:p.Gln635Pro
NM_015570.3:c.1976A>C NP_056385.1:p.Gln659Pro
XM_005250257.1:c.623A>C XP_005250314.1:p.Gln208Pro
XM_011516010.1:c.1997A>C XP_011514312.1:p.Gln666Pro
XM_011516011.1:c.1994A>C XP_011514313.1:p.Gln665Pro
XM_011516012.1:c.1931A>C XP_011514314.1:p.Gln644Pro
XM_011516013.1:c.1925A>C XP_011514315.1:p.Gln642Pro
XM_011516014.1:c.1895A>C XP_011514316.1:p.Gln632Pro
XM_011516015.1:c.1733A>C XP_011514317.1:p.Gln578Pro
XM_011516016.1:c.1706A>C XP_011514318.1:p.Gln569Pro
XM_011516017.1:c.1523A>C XP_011514319.1:p.Gln508Pro
XM_011516018.1:c.1496A>C XP_011514320.1:p.Gln499Pro
XM_005250257.2:c.623A>C XP_005250314.1:p.Gln208Pro
XM_011516010.2:c.1997A>C XP_011514312.1:p.Gln666Pro
XM_011516011.2:c.1994A>C XP_011514313.1:p.Gln665Pro
XM_011516012.2:c.1931A>C XP_011514314.1:p.Gln644Pro
XM_011516013.2:c.1925A>C XP_011514315.1:p.Gln642Pro
XM_011516014.2:c.1895A>C XP_011514316.1:p.Gln632Pro
XM_011516017.2:c.1523A>C XP_011514319.1:p.Gln508Pro
XM_011516018.2:c.1496A>C XP_011514320.1:p.Gln499Pro
XM_017011951.2:c.1997A>C XP_016867440.1:p.Gln666Pro
NM_001127231.3:c.1904A>C NP_001120703.1:p.Gln635Pro
NM_015570.4:c.1976A>C MANE Select NP_056385.1:p.Gln659Pro