Canonical Allele Identifier: CA4280856
Gene: AUTS2 HGNC NCBI

Linked Data

dbSNP Id: rs759142229
gnomAD v2: 7-70242091-A-G
gnomAD v3: 7-70777105-A-G
gnomAD v4: 7-70777105-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777105A>G , CM000669.2:g.70777105A>G GRCh38
NC_000007.13:g.70242091A>G , CM000669.1:g.70242091A>G GRCh37
NC_000007.12:g.69880027A>G NCBI36
NG_034133.1:g.1183187A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.3A>G ENSP00000514784.1:p.Lys1=
ENST00000342771.10:c.1935A>G MANE Select ENSP00000344087.4:p.Lys645=
ENST00000439256.2:c.33A>G ENSP00000407058.2:p.Lys11=
ENST00000443672.2:c.270A>G ENSP00000393548.2:p.Lys90=
ENST00000449547.6:c.28A>G
ENST00000464768.2:n.603A>G
ENST00000644359.1:c.516A>G ENSP00000494561.1:p.Lys172=
ENST00000644506.1:c.561A>G ENSP00000496672.1:p.Lys187=
ENST00000644939.1:c.1932A>G ENSP00000496726.1:p.Lys644=
ENST00000644949.1:c.266A>G
ENST00000646136.1:n.246A>G
ENST00000647140.1:c.800A>G
ENST00000342771.8:c.1935A>G ENSP00000344087.4:p.Lys645=
ENST00000406775.6:c.1863A>G ENSP00000385263.2:p.Lys621=
ENST00000439256.1:c.33A>G
ENST00000443672.1:c.515A>G
ENST00000464768.1:n.601A>G
ENST00000465899.1:n.432A>G
ENST00000498384.5:n.303A>G
ENST00000611706.4:c.1191A>G ENSP00000478134.1:p.Lys397=
ENST00000615871.4:c.1119A>G ENSP00000479325.1:p.Lys373=
NM_001127231.2:c.1863A>G NP_001120703.1:p.Lys621=
NM_015570.3:c.1935A>G NP_056385.1:p.Lys645=
XM_005250257.1:c.582A>G XP_005250314.1:p.Lys194=
XM_011516010.1:c.1956A>G XP_011514312.1:p.Lys652=
XM_011516011.1:c.1953A>G XP_011514313.1:p.Lys651=
XM_011516012.1:c.1890A>G XP_011514314.1:p.Lys630=
XM_011516013.1:c.1884A>G XP_011514315.1:p.Lys628=
XM_011516014.1:c.1854A>G XP_011514316.1:p.Lys618=
XM_011516015.1:c.1692A>G XP_011514317.1:p.Lys564=
XM_011516016.1:c.1665A>G XP_011514318.1:p.Lys555=
XM_011516017.1:c.1482A>G XP_011514319.1:p.Lys494=
XM_011516018.1:c.1455A>G XP_011514320.1:p.Lys485=
XM_005250257.2:c.582A>G XP_005250314.1:p.Lys194=
XM_011516010.2:c.1956A>G XP_011514312.1:p.Lys652=
XM_011516011.2:c.1953A>G XP_011514313.1:p.Lys651=
XM_011516012.2:c.1890A>G XP_011514314.1:p.Lys630=
XM_011516013.2:c.1884A>G XP_011514315.1:p.Lys628=
XM_011516014.2:c.1854A>G XP_011514316.1:p.Lys618=
XM_011516017.2:c.1482A>G XP_011514319.1:p.Lys494=
XM_011516018.2:c.1455A>G XP_011514320.1:p.Lys485=
XM_017011951.2:c.1956A>G XP_016867440.1:p.Lys652=
NM_001127231.3:c.1863A>G NP_001120703.1:p.Lys621=
NM_015570.4:c.1935A>G MANE Select NP_056385.1:p.Lys645=