Canonical Allele Identifier: CA367669724
Gene: AUTS2 HGNC NCBI

Linked Data

dbSNP Id: rs1224197797
gnomAD v2: 7-70242096-G-A
gnomAD v4: 7-70777110-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777110G>A , CM000669.2:g.70777110G>A GRCh38
NC_000007.13:g.70242096G>A , CM000669.1:g.70242096G>A GRCh37
NC_000007.12:g.69880032G>A NCBI36
NG_034133.1:g.1183192G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.8G>A ENSP00000514784.1:p.Gly3Glu
ENST00000342771.10:c.1940G>A MANE Select ENSP00000344087.4:p.Gly647Glu
ENST00000439256.2:c.38G>A ENSP00000407058.2:p.Gly13Glu
ENST00000443672.2:c.275G>A ENSP00000393548.2:p.Gly92Glu
ENST00000449547.6:c.33G>A
ENST00000464768.2:n.608G>A
ENST00000644359.1:c.521G>A ENSP00000494561.1:p.Gly174Glu
ENST00000644506.1:c.566G>A ENSP00000496672.1:p.Gly189Glu
ENST00000644939.1:c.1937G>A ENSP00000496726.1:p.Gly646Glu
ENST00000644949.1:c.271G>A
ENST00000646136.1:n.251G>A
ENST00000647140.1:c.805G>A
ENST00000342771.8:c.1940G>A ENSP00000344087.4:p.Gly647Glu
ENST00000406775.6:c.1868G>A ENSP00000385263.2:p.Gly623Glu
ENST00000439256.1:c.38G>A
ENST00000443672.1:c.520G>A
ENST00000464768.1:n.606G>A
ENST00000465899.1:n.437G>A
ENST00000498384.5:n.308G>A
ENST00000611706.4:c.1196G>A ENSP00000478134.1:p.Gly399Glu
ENST00000615871.4:c.1124G>A ENSP00000479325.1:p.Gly375Glu
NM_001127231.2:c.1868G>A NP_001120703.1:p.Gly623Glu
NM_015570.3:c.1940G>A NP_056385.1:p.Gly647Glu
XM_005250257.1:c.587G>A XP_005250314.1:p.Gly196Glu
XM_011516010.1:c.1961G>A XP_011514312.1:p.Gly654Glu
XM_011516011.1:c.1958G>A XP_011514313.1:p.Gly653Glu
XM_011516012.1:c.1895G>A XP_011514314.1:p.Gly632Glu
XM_011516013.1:c.1889G>A XP_011514315.1:p.Gly630Glu
XM_011516014.1:c.1859G>A XP_011514316.1:p.Gly620Glu
XM_011516015.1:c.1697G>A XP_011514317.1:p.Gly566Glu
XM_011516016.1:c.1670G>A XP_011514318.1:p.Gly557Glu
XM_011516017.1:c.1487G>A XP_011514319.1:p.Gly496Glu
XM_011516018.1:c.1460G>A XP_011514320.1:p.Gly487Glu
XM_005250257.2:c.587G>A XP_005250314.1:p.Gly196Glu
XM_011516010.2:c.1961G>A XP_011514312.1:p.Gly654Glu
XM_011516011.2:c.1958G>A XP_011514313.1:p.Gly653Glu
XM_011516012.2:c.1895G>A XP_011514314.1:p.Gly632Glu
XM_011516013.2:c.1889G>A XP_011514315.1:p.Gly630Glu
XM_011516014.2:c.1859G>A XP_011514316.1:p.Gly620Glu
XM_011516017.2:c.1487G>A XP_011514319.1:p.Gly496Glu
XM_011516018.2:c.1460G>A XP_011514320.1:p.Gly487Glu
XM_017011951.2:c.1961G>A XP_016867440.1:p.Gly654Glu
NM_001127231.3:c.1868G>A NP_001120703.1:p.Gly623Glu
NM_015570.4:c.1940G>A MANE Select NP_056385.1:p.Gly647Glu