Canonical Allele Identifier: CA367669771

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242114A>G (hg19) ; chr7:g.70777128A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777128A>G , CM000669.2:g.70777128A>G	GRCh38
NC_000007.13:g.70242114A>G , CM000669.1:g.70242114A>G	GRCh37
NC_000007.12:g.69880050A>G	NCBI36
NG_034133.1:g.1183210A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.26A>G	ENSP00000514784.1:p.His9Arg
ENST00000342771.10:c.1958A>G MANE Select	ENSP00000344087.4:p.His653Arg
ENST00000439256.2:c.56A>G	ENSP00000407058.2:p.His19Arg
ENST00000443672.2:c.293A>G	ENSP00000393548.2:p.His98Arg
ENST00000449547.6:c.51A>G
ENST00000464768.2:n.626A>G
ENST00000644359.1:c.539A>G	ENSP00000494561.1:p.His180Arg
ENST00000644506.1:c.584A>G	ENSP00000496672.1:p.His195Arg
ENST00000644939.1:c.1955A>G	ENSP00000496726.1:p.His652Arg
ENST00000644949.1:c.289A>G
ENST00000646136.1:n.269A>G
ENST00000647140.1:c.823A>G
ENST00000342771.8:c.1958A>G	ENSP00000344087.4:p.His653Arg
ENST00000406775.6:c.1886A>G	ENSP00000385263.2:p.His629Arg
ENST00000439256.1:c.56A>G
ENST00000443672.1:c.538A>G
ENST00000464768.1:n.624A>G
ENST00000465899.1:n.455A>G
ENST00000498384.5:n.326A>G
ENST00000611706.4:c.1214A>G	ENSP00000478134.1:p.His405Arg
ENST00000615871.4:c.1142A>G	ENSP00000479325.1:p.His381Arg
NM_001127231.2:c.1886A>G	NP_001120703.1:p.His629Arg
NM_015570.3:c.1958A>G	NP_056385.1:p.His653Arg
XM_005250257.1:c.605A>G	XP_005250314.1:p.His202Arg
XM_011516010.1:c.1979A>G	XP_011514312.1:p.His660Arg
XM_011516011.1:c.1976A>G	XP_011514313.1:p.His659Arg
XM_011516012.1:c.1913A>G	XP_011514314.1:p.His638Arg
XM_011516013.1:c.1907A>G	XP_011514315.1:p.His636Arg
XM_011516014.1:c.1877A>G	XP_011514316.1:p.His626Arg
XM_011516015.1:c.1715A>G	XP_011514317.1:p.His572Arg
XM_011516016.1:c.1688A>G	XP_011514318.1:p.His563Arg
XM_011516017.1:c.1505A>G	XP_011514319.1:p.His502Arg
XM_011516018.1:c.1478A>G	XP_011514320.1:p.His493Arg
XM_005250257.2:c.605A>G	XP_005250314.1:p.His202Arg
XM_011516010.2:c.1979A>G	XP_011514312.1:p.His660Arg
XM_011516011.2:c.1976A>G	XP_011514313.1:p.His659Arg
XM_011516012.2:c.1913A>G	XP_011514314.1:p.His638Arg
XM_011516013.2:c.1907A>G	XP_011514315.1:p.His636Arg
XM_011516014.2:c.1877A>G	XP_011514316.1:p.His626Arg
XM_011516017.2:c.1505A>G	XP_011514319.1:p.His502Arg
XM_011516018.2:c.1478A>G	XP_011514320.1:p.His493Arg
XM_017011951.2:c.1979A>G	XP_016867440.1:p.His660Arg
NM_001127231.3:c.1886A>G	NP_001120703.1:p.His629Arg
NM_015570.4:c.1958A>G MANE Select	NP_056385.1:p.His653Arg