Canonical Allele Identifier: CA367703011
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69599831G>C , CM000669.2:g.69599831G>C GRCh38
NC_000007.13:g.69064817G>C , CM000669.1:g.69064817G>C GRCh37
NC_000007.12:g.68702753G>C NCBI36
NG_034133.1:g.5913G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342771.10:c.178G>C MANE Select ENSP00000344087.4:p.Gly60Arg
ENST00000403018.3:c.178G>C ENSP00000385572.2:p.Gly60Arg
ENST00000644939.1:c.178G>C ENSP00000496726.1:p.Gly60Arg
ENST00000342771.8:c.178G>C ENSP00000344087.4:p.Gly60Arg
ENST00000403018.2:c.178G>C ENSP00000385572.2:p.Gly60Arg
ENST00000406775.6:c.178G>C ENSP00000385263.2:p.Gly60Arg
NM_001127231.2:c.178G>C NP_001120703.1:p.Gly60Arg
NM_001127232.2:c.178G>C NP_001120704.1:p.Gly60Arg
NM_015570.3:c.178G>C NP_056385.1:p.Gly60Arg
XM_011516010.1:c.178G>C XP_011514312.1:p.Gly60Arg
XM_011516011.1:c.178G>C XP_011514313.1:p.Gly60Arg
XM_011516012.1:c.178G>C XP_011514314.1:p.Gly60Arg
XM_011516013.1:c.178G>C XP_011514315.1:p.Gly60Arg
XM_011516014.1:c.178G>C XP_011514316.1:p.Gly60Arg
XM_011516015.1:c.178G>C XP_011514317.1:p.Gly60Arg
XM_011516010.2:c.178G>C XP_011514312.1:p.Gly60Arg
XM_011516011.2:c.178G>C XP_011514313.1:p.Gly60Arg
XM_011516012.2:c.178G>C XP_011514314.1:p.Gly60Arg
XM_011516013.2:c.178G>C XP_011514315.1:p.Gly60Arg
XM_011516014.2:c.178G>C XP_011514316.1:p.Gly60Arg
XM_017011951.2:c.178G>C XP_016867440.1:p.Gly60Arg
NM_001127231.3:c.178G>C NP_001120703.1:p.Gly60Arg
NM_001127232.3:c.178G>C NP_001120704.1:p.Gly60Arg
NM_015570.4:c.178G>C MANE Select NP_056385.1:p.Gly60Arg