Canonical Allele Identifier: CA4281186
Community Standard Title: NM_015570.4(AUTS2):c.2791G>A (p.Glu931Lys)
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70790007G>A , CM000669.2:g.70790007G>A GRCh38
NC_000007.13:g.70254993G>A , CM000669.1:g.70254993G>A GRCh37
NC_000007.12:g.69892929G>A NCBI36
NG_034133.1:g.1196089G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015570.4:c.2791G>A MANE Select NP_056385.1:p.Glu931Lys
ENST00000342771.10:c.2791G>A MANE Select ENSP00000344087.4:p.Glu931Lys
NM_001127231.2:c.2719G>A NP_001120703.1:p.Glu907Lys
NM_001127231.3:c.2719G>A NP_001120703.1:p.Glu907Lys
NM_015570.3:c.2791G>A NP_056385.1:p.Glu931Lys
ENST00000342771.8:c.2791G>A ENSP00000344087.4:p.Glu931Lys
ENST00000406775.6:c.2719G>A ENSP00000385263.2:p.Glu907Lys
ENST00000449547.6:c.713G>A
ENST00000611706.4:c.2047G>A ENSP00000478134.1:p.Glu683Lys
ENST00000615871.4:c.1975G>A ENSP00000479325.1:p.Glu659Lys
ENST00000644359.1:c.1372G>A ENSP00000494561.1:p.Glu458Lys
ENST00000644506.1:c.1417G>A ENSP00000496672.1:p.Glu473Lys
ENST00000644939.1:c.2788G>A ENSP00000496726.1:p.Glu930Lys
ENST00000646193.1:n.771G>A
ENST00000647140.1:c.1656G>A
ENST00000700075.1:c.717G>A ENSP00000514784.1:n.717G>A
XM_005250257.1:c.1438G>A XP_005250314.1:p.Glu480Lys
XM_005250257.2:c.1438G>A XP_005250314.1:p.Glu480Lys
XM_011516010.1:c.2812G>A XP_011514312.1:p.Glu938Lys
XM_011516010.2:c.2812G>A XP_011514312.1:p.Glu938Lys
XM_011516011.1:c.2809G>A XP_011514313.1:p.Glu937Lys
XM_011516011.2:c.2809G>A XP_011514313.1:p.Glu937Lys
XM_011516012.1:c.2746G>A XP_011514314.1:p.Glu916Lys
XM_011516012.2:c.2746G>A XP_011514314.1:p.Glu916Lys
XM_011516013.1:c.2740G>A XP_011514315.1:p.Glu914Lys
XM_011516013.2:c.2740G>A XP_011514315.1:p.Glu914Lys
XM_011516014.1:c.2710G>A XP_011514316.1:p.Glu904Lys
XM_011516014.2:c.2710G>A XP_011514316.1:p.Glu904Lys
XM_011516015.1:c.2548G>A XP_011514317.1:p.Glu850Lys
XM_011516016.1:c.2521G>A XP_011514318.1:p.Glu841Lys
XM_011516017.1:c.2338G>A XP_011514319.1:p.Glu780Lys
XM_011516017.2:c.2338G>A XP_011514319.1:p.Glu780Lys
XM_011516018.1:c.2311G>A XP_011514320.1:p.Glu771Lys
XM_011516018.2:c.2311G>A XP_011514320.1:p.Glu771Lys
XM_017011951.2:c.*286G>A XP_016867440.1:n.*286G>A