Canonical Allele Identifier: CA367669837
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777156C>G , CM000669.2:g.70777156C>G GRCh38
NC_000007.13:g.70242142C>G , CM000669.1:g.70242142C>G GRCh37
NC_000007.12:g.69880078C>G NCBI36
NG_034133.1:g.1183238C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.54C>G ENSP00000514784.1:p.His18Gln
ENST00000342771.10:c.1986C>G MANE Select ENSP00000344087.4:p.His662Gln
ENST00000439256.2:c.84C>G ENSP00000407058.2:p.His28Gln
ENST00000443672.2:c.321C>G ENSP00000393548.2:p.His107Gln
ENST00000449547.6:c.79C>G
ENST00000464768.2:n.654C>G
ENST00000644359.1:c.567C>G ENSP00000494561.1:p.His189Gln
ENST00000644506.1:c.612C>G ENSP00000496672.1:p.His204Gln
ENST00000644939.1:c.1983C>G ENSP00000496726.1:p.His661Gln
ENST00000646136.1:n.297C>G
ENST00000647140.1:c.851C>G
ENST00000342771.8:c.1986C>G ENSP00000344087.4:p.His662Gln
ENST00000406775.6:c.1914C>G ENSP00000385263.2:p.His638Gln
ENST00000439256.1:c.84C>G
ENST00000464768.1:n.652C>G
ENST00000465899.1:n.483C>G
ENST00000498384.5:n.354C>G
ENST00000611706.4:c.1242C>G ENSP00000478134.1:p.His414Gln
ENST00000615871.4:c.1170C>G ENSP00000479325.1:p.His390Gln
NM_001127231.2:c.1914C>G NP_001120703.1:p.His638Gln
NM_015570.3:c.1986C>G NP_056385.1:p.His662Gln
XM_005250257.1:c.633C>G XP_005250314.1:p.His211Gln
XM_011516010.1:c.2007C>G XP_011514312.1:p.His669Gln
XM_011516011.1:c.2004C>G XP_011514313.1:p.His668Gln
XM_011516012.1:c.1941C>G XP_011514314.1:p.His647Gln
XM_011516013.1:c.1935C>G XP_011514315.1:p.His645Gln
XM_011516014.1:c.1905C>G XP_011514316.1:p.His635Gln
XM_011516015.1:c.1743C>G XP_011514317.1:p.His581Gln
XM_011516016.1:c.1716C>G XP_011514318.1:p.His572Gln
XM_011516017.1:c.1533C>G XP_011514319.1:p.His511Gln
XM_011516018.1:c.1506C>G XP_011514320.1:p.His502Gln
XM_005250257.2:c.633C>G XP_005250314.1:p.His211Gln
XM_011516010.2:c.2007C>G XP_011514312.1:p.His669Gln
XM_011516011.2:c.2004C>G XP_011514313.1:p.His668Gln
XM_011516012.2:c.1941C>G XP_011514314.1:p.His647Gln
XM_011516013.2:c.1935C>G XP_011514315.1:p.His645Gln
XM_011516014.2:c.1905C>G XP_011514316.1:p.His635Gln
XM_011516017.2:c.1533C>G XP_011514319.1:p.His511Gln
XM_011516018.2:c.1506C>G XP_011514320.1:p.His502Gln
XM_017011951.2:c.2007C>G XP_016867440.1:p.His669Gln
NM_001127231.3:c.1914C>G NP_001120703.1:p.His638Gln
NM_015570.4:c.1986C>G MANE Select NP_056385.1:p.His662Gln