Canonical Allele Identifier: CA367669845
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777159C>G , CM000669.2:g.70777159C>G GRCh38
NC_000007.13:g.70242145C>G , CM000669.1:g.70242145C>G GRCh37
NC_000007.12:g.69880081C>G NCBI36
NG_034133.1:g.1183241C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.57C>G ENSP00000514784.1:p.His19Gln
ENST00000342771.10:c.1989C>G MANE Select ENSP00000344087.4:p.His663Gln
ENST00000439256.2:c.87C>G ENSP00000407058.2:p.His29Gln
ENST00000443672.2:c.324C>G ENSP00000393548.2:p.His108Gln
ENST00000449547.6:c.82C>G
ENST00000464768.2:n.657C>G
ENST00000644359.1:c.570C>G ENSP00000494561.1:p.His190Gln
ENST00000644506.1:c.615C>G ENSP00000496672.1:p.His205Gln
ENST00000644939.1:c.1986C>G ENSP00000496726.1:p.His662Gln
ENST00000646136.1:n.300C>G
ENST00000647140.1:c.854C>G
ENST00000342771.8:c.1989C>G ENSP00000344087.4:p.His663Gln
ENST00000406775.6:c.1917C>G ENSP00000385263.2:p.His639Gln
ENST00000439256.1:c.87C>G
ENST00000464768.1:n.655C>G
ENST00000465899.1:n.486C>G
ENST00000498384.5:n.357C>G
ENST00000611706.4:c.1245C>G ENSP00000478134.1:p.His415Gln
ENST00000615871.4:c.1173C>G ENSP00000479325.1:p.His391Gln
NM_001127231.2:c.1917C>G NP_001120703.1:p.His639Gln
NM_015570.3:c.1989C>G NP_056385.1:p.His663Gln
XM_005250257.1:c.636C>G XP_005250314.1:p.His212Gln
XM_011516010.1:c.2010C>G XP_011514312.1:p.His670Gln
XM_011516011.1:c.2007C>G XP_011514313.1:p.His669Gln
XM_011516012.1:c.1944C>G XP_011514314.1:p.His648Gln
XM_011516013.1:c.1938C>G XP_011514315.1:p.His646Gln
XM_011516014.1:c.1908C>G XP_011514316.1:p.His636Gln
XM_011516015.1:c.1746C>G XP_011514317.1:p.His582Gln
XM_011516016.1:c.1719C>G XP_011514318.1:p.His573Gln
XM_011516017.1:c.1536C>G XP_011514319.1:p.His512Gln
XM_011516018.1:c.1509C>G XP_011514320.1:p.His503Gln
XM_005250257.2:c.636C>G XP_005250314.1:p.His212Gln
XM_011516010.2:c.2010C>G XP_011514312.1:p.His670Gln
XM_011516011.2:c.2007C>G XP_011514313.1:p.His669Gln
XM_011516012.2:c.1944C>G XP_011514314.1:p.His648Gln
XM_011516013.2:c.1938C>G XP_011514315.1:p.His646Gln
XM_011516014.2:c.1908C>G XP_011514316.1:p.His636Gln
XM_011516017.2:c.1536C>G XP_011514319.1:p.His512Gln
XM_011516018.2:c.1509C>G XP_011514320.1:p.His503Gln
XM_017011951.2:c.2010C>G XP_016867440.1:p.His670Gln
NM_001127231.3:c.1917C>G NP_001120703.1:p.His639Gln
NM_015570.4:c.1989C>G MANE Select NP_056385.1:p.His663Gln