Canonical Allele Identifier: CA4281298
Community Standard Title: NM_015570.4(AUTS2):c.3299C>A (p.Pro1100Gln)
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70790515C>A , CM000669.2:g.70790515C>A GRCh38
NC_000007.13:g.70255501C>A , CM000669.1:g.70255501C>A GRCh37
NC_000007.12:g.69893437C>A NCBI36
NG_034133.1:g.1196597C>A

Transcript Alleles

HGVS Amino-acid Change
NM_015570.4:c.3299C>A MANE Select NP_056385.1:p.Pro1100Gln
ENST00000342771.10:c.3299C>A MANE Select ENSP00000344087.4:p.Pro1100Gln
NM_001127231.2:c.3227C>A NP_001120703.1:p.Pro1076Gln
NM_001127231.3:c.3227C>A NP_001120703.1:p.Pro1076Gln
NM_015570.3:c.3299C>A NP_056385.1:p.Pro1100Gln
ENST00000342771.8:c.3299C>A ENSP00000344087.4:p.Pro1100Gln
ENST00000406775.6:c.3227C>A ENSP00000385263.2:p.Pro1076Gln
ENST00000611706.4:c.2555C>A ENSP00000478134.1:p.Pro852Gln
ENST00000615871.4:c.2483C>A ENSP00000479325.1:p.Pro828Gln
ENST00000644359.1:c.1880C>A ENSP00000494561.1:p.Pro627Gln
ENST00000644506.1:c.1925C>A ENSP00000496672.1:p.Pro642Gln
ENST00000644939.1:c.3296C>A ENSP00000496726.1:p.Pro1099Gln
ENST00000647140.1:c.2164C>A
ENST00000700075.1:c.1225C>A ENSP00000514784.1:n.1225C>A
XM_005250257.1:c.1946C>A XP_005250314.1:p.Pro649Gln
XM_005250257.2:c.1946C>A XP_005250314.1:p.Pro649Gln
XM_011516010.1:c.3320C>A XP_011514312.1:p.Pro1107Gln
XM_011516010.2:c.3320C>A XP_011514312.1:p.Pro1107Gln
XM_011516011.1:c.3317C>A XP_011514313.1:p.Pro1106Gln
XM_011516011.2:c.3317C>A XP_011514313.1:p.Pro1106Gln
XM_011516012.1:c.3254C>A XP_011514314.1:p.Pro1085Gln
XM_011516012.2:c.3254C>A XP_011514314.1:p.Pro1085Gln
XM_011516013.1:c.3248C>A XP_011514315.1:p.Pro1083Gln
XM_011516013.2:c.3248C>A XP_011514315.1:p.Pro1083Gln
XM_011516014.1:c.3218C>A XP_011514316.1:p.Pro1073Gln
XM_011516014.2:c.3218C>A XP_011514316.1:p.Pro1073Gln
XM_011516015.1:c.3056C>A XP_011514317.1:p.Pro1019Gln
XM_011516016.1:c.3029C>A XP_011514318.1:p.Pro1010Gln
XM_011516017.1:c.2846C>A XP_011514319.1:p.Pro949Gln
XM_011516017.2:c.2846C>A XP_011514319.1:p.Pro949Gln
XM_011516018.1:c.2819C>A XP_011514320.1:p.Pro940Gln
XM_011516018.2:c.2819C>A XP_011514320.1:p.Pro940Gln
XM_017011951.2:c.*794C>A XP_016867440.1:n.*794C>A