Canonical Allele Identifier: CA367667471

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70763044-T-G
• MyVariant Identifiers: chr7:g.70228030T>G (hg19) ; chr7:g.70763044T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70763044T>G , CM000669.2:g.70763044T>G	GRCh38
NC_000007.13:g.70228030T>G , CM000669.1:g.70228030T>G	GRCh37
NC_000007.12:g.69865966T>G	NCBI36
NG_034133.1:g.1169126T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.917T>G MANE Select	ENSP00000344087.4:p.Ile306Arg
ENST00000443672.2:c.-197-3070T>G	ENSP00000393548.2:n.-197-3070T>G
ENST00000644359.1:c.-455T>G	ENSP00000494561.1:n.-455T>G
ENST00000644506.1:c.-455T>G	ENSP00000496672.1:n.-455T>G
ENST00000644939.1:c.917T>G	ENSP00000496726.1:p.Ile306Arg
ENST00000656200.1:c.-458T>G	ENSP00000499508.1:n.-458T>G
ENST00000342771.8:c.917T>G	ENSP00000344087.4:p.Ile306Arg
ENST00000406775.6:c.917T>G	ENSP00000385263.2:p.Ile306Arg
ENST00000416482.1:c.258T>G
ENST00000611706.4:c.173T>G	ENSP00000478134.1:p.Ile58Arg
ENST00000615871.4:c.173T>G	ENSP00000479325.1:p.Ile58Arg
NM_001127231.2:c.917T>G	NP_001120703.1:p.Ile306Arg
NM_015570.3:c.917T>G	NP_056385.1:p.Ile306Arg
XM_011516010.1:c.917T>G	XP_011514312.1:p.Ile306Arg
XM_011516011.1:c.917T>G	XP_011514313.1:p.Ile306Arg
XM_011516012.1:c.917T>G	XP_011514314.1:p.Ile306Arg
XM_011516013.1:c.917T>G	XP_011514315.1:p.Ile306Arg
XM_011516014.1:c.917T>G	XP_011514316.1:p.Ile306Arg
XM_011516015.1:c.917T>G	XP_011514317.1:p.Ile306Arg
XM_011516016.1:c.626T>G	XP_011514318.1:p.Ile209Arg
XM_011516017.1:c.443T>G	XP_011514319.1:p.Ile148Arg
XM_011516018.1:c.416T>G	XP_011514320.1:p.Ile139Arg
XM_011516010.2:c.917T>G	XP_011514312.1:p.Ile306Arg
XM_011516011.2:c.917T>G	XP_011514313.1:p.Ile306Arg
XM_011516012.2:c.917T>G	XP_011514314.1:p.Ile306Arg
XM_011516013.2:c.917T>G	XP_011514315.1:p.Ile306Arg
XM_011516014.2:c.917T>G	XP_011514316.1:p.Ile306Arg
XM_011516017.2:c.443T>G	XP_011514319.1:p.Ile148Arg
XM_011516018.2:c.416T>G	XP_011514320.1:p.Ile139Arg
XM_017011951.2:c.917T>G	XP_016867440.1:p.Ile306Arg
NM_001127231.3:c.917T>G	NP_001120703.1:p.Ile306Arg
NM_015570.4:c.917T>G MANE Select	NP_056385.1:p.Ile306Arg