Canonical Allele Identifier: CA1716031984
Gene: AUTS2 HGNC NCBI

Linked Data

dbSNP Id: rs1802409088

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70581019A>C , CM000669.2:g.70581019A>C GRCh38
NC_000007.13:g.70046005A>C , CM000669.1:g.70046005A>C GRCh37
NC_000007.12:g.69683941A>C NCBI36
NG_034133.1:g.987101A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342771.10:c.691-117550A>C MANE Select ENSP00000344087.4:n.691-117550A>C
ENST00000644939.1:c.691-117550A>C ENSP00000496726.1:n.691-117550A>C
ENST00000342771.8:c.691-117550A>C ENSP00000344087.4:n.691-117550A>C
ENST00000406775.6:c.691-117550A>C ENSP00000385263.2:n.691-117550A>C
NM_001127231.2:c.691-117550A>C NP_001120703.1:n.691-117550A>C
NM_015570.3:c.691-117550A>C NP_056385.1:n.691-117550A>C
XM_011516010.1:c.691-117550A>C XP_011514312.1:n.691-117550A>C
XM_011516011.1:c.691-117550A>C XP_011514313.1:n.691-117550A>C
XM_011516012.1:c.691-117550A>C XP_011514314.1:n.691-117550A>C
XM_011516013.1:c.691-117550A>C XP_011514315.1:n.691-117550A>C
XM_011516014.1:c.691-117550A>C XP_011514316.1:n.691-117550A>C
XM_011516015.1:c.691-117550A>C XP_011514317.1:n.691-117550A>C
XM_011516016.1:c.400-117550A>C XP_011514318.1:n.400-117550A>C
XM_011516017.1:c.217-117550A>C XP_011514319.1:n.217-117550A>C
XM_011516018.1:c.190-117550A>C XP_011514320.1:n.190-117550A>C
XM_011516010.2:c.691-117550A>C XP_011514312.1:n.691-117550A>C
XM_011516011.2:c.691-117550A>C XP_011514313.1:n.691-117550A>C
XM_011516012.2:c.691-117550A>C XP_011514314.1:n.691-117550A>C
XM_011516013.2:c.691-117550A>C XP_011514315.1:n.691-117550A>C
XM_011516014.2:c.691-117550A>C XP_011514316.1:n.691-117550A>C
XM_011516017.2:c.217-117550A>C XP_011514319.1:n.217-117550A>C
XM_011516018.2:c.190-117550A>C XP_011514320.1:n.190-117550A>C
XM_017011951.2:c.691-117550A>C XP_016867440.1:n.691-117550A>C
NM_001127231.3:c.691-117550A>C NP_001120703.1:n.691-117550A>C
NM_015570.4:c.691-117550A>C MANE Select NP_056385.1:n.691-117550A>C