Canonical Allele Identifier: CA367667400
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70763011T>G , CM000669.2:g.70763011T>G GRCh38
NC_000007.13:g.70227997T>G , CM000669.1:g.70227997T>G GRCh37
NC_000007.12:g.69865933T>G NCBI36
NG_034133.1:g.1169093T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342771.10:c.884T>G MANE Select ENSP00000344087.4:p.Leu295Arg
ENST00000443672.2:c.-197-3103T>G ENSP00000393548.2:n.-197-3103T>G
ENST00000644359.1:c.-488T>G ENSP00000494561.1:n.-488T>G
ENST00000644506.1:c.-488T>G ENSP00000496672.1:n.-488T>G
ENST00000644939.1:c.884T>G ENSP00000496726.1:p.Leu295Arg
ENST00000656200.1:c.-491T>G ENSP00000499508.1:n.-491T>G
ENST00000342771.8:c.884T>G ENSP00000344087.4:p.Leu295Arg
ENST00000406775.6:c.884T>G ENSP00000385263.2:p.Leu295Arg
ENST00000416482.1:c.225T>G
ENST00000611706.4:c.140T>G ENSP00000478134.1:p.Leu47Arg
ENST00000615871.4:c.140T>G ENSP00000479325.1:p.Leu47Arg
NM_001127231.2:c.884T>G NP_001120703.1:p.Leu295Arg
NM_015570.3:c.884T>G NP_056385.1:p.Leu295Arg
XM_011516010.1:c.884T>G XP_011514312.1:p.Leu295Arg
XM_011516011.1:c.884T>G XP_011514313.1:p.Leu295Arg
XM_011516012.1:c.884T>G XP_011514314.1:p.Leu295Arg
XM_011516013.1:c.884T>G XP_011514315.1:p.Leu295Arg
XM_011516014.1:c.884T>G XP_011514316.1:p.Leu295Arg
XM_011516015.1:c.884T>G XP_011514317.1:p.Leu295Arg
XM_011516016.1:c.593T>G XP_011514318.1:p.Leu198Arg
XM_011516017.1:c.410T>G XP_011514319.1:p.Leu137Arg
XM_011516018.1:c.383T>G XP_011514320.1:p.Leu128Arg
XM_011516010.2:c.884T>G XP_011514312.1:p.Leu295Arg
XM_011516011.2:c.884T>G XP_011514313.1:p.Leu295Arg
XM_011516012.2:c.884T>G XP_011514314.1:p.Leu295Arg
XM_011516013.2:c.884T>G XP_011514315.1:p.Leu295Arg
XM_011516014.2:c.884T>G XP_011514316.1:p.Leu295Arg
XM_011516017.2:c.410T>G XP_011514319.1:p.Leu137Arg
XM_011516018.2:c.383T>G XP_011514320.1:p.Leu128Arg
XM_017011951.2:c.884T>G XP_016867440.1:p.Leu295Arg
NM_001127231.3:c.884T>G NP_001120703.1:p.Leu295Arg
NM_015570.4:c.884T>G MANE Select NP_056385.1:p.Leu295Arg