Canonical Allele Identifier: CA4280511

Gene: AUTS2

Linked Data

• dbSNP Id: rs752994853
• ExAC: 7:70228031 A / C
• gnomAD v2: 7-70228031-A-C
• gnomAD v4: 7-70763045-A-C
• MyVariant Identifiers: chr7:g.70228031A>C (hg19) ; chr7:g.70763045A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70763045A>C , CM000669.2:g.70763045A>C	GRCh38
NC_000007.13:g.70228031A>C , CM000669.1:g.70228031A>C	GRCh37
NC_000007.12:g.69865967A>C	NCBI36
NG_034133.1:g.1169127A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.918A>C MANE Select	ENSP00000344087.4:p.Ile306=
ENST00000443672.2:c.-197-3069A>C	ENSP00000393548.2:n.-197-3069A>C
ENST00000644359.1:c.-454A>C	ENSP00000494561.1:n.-454A>C
ENST00000644506.1:c.-454A>C	ENSP00000496672.1:n.-454A>C
ENST00000644939.1:c.918A>C	ENSP00000496726.1:p.Ile306=
ENST00000656200.1:c.-457A>C	ENSP00000499508.1:n.-457A>C
ENST00000342771.8:c.918A>C	ENSP00000344087.4:p.Ile306=
ENST00000406775.6:c.918A>C	ENSP00000385263.2:p.Ile306=
ENST00000416482.1:c.259A>C
ENST00000611706.4:c.174A>C	ENSP00000478134.1:p.Ile58=
ENST00000615871.4:c.174A>C	ENSP00000479325.1:p.Ile58=
NM_001127231.2:c.918A>C	NP_001120703.1:p.Ile306=
NM_015570.3:c.918A>C	NP_056385.1:p.Ile306=
XM_011516010.1:c.918A>C	XP_011514312.1:p.Ile306=
XM_011516011.1:c.918A>C	XP_011514313.1:p.Ile306=
XM_011516012.1:c.918A>C	XP_011514314.1:p.Ile306=
XM_011516013.1:c.918A>C	XP_011514315.1:p.Ile306=
XM_011516014.1:c.918A>C	XP_011514316.1:p.Ile306=
XM_011516015.1:c.918A>C	XP_011514317.1:p.Ile306=
XM_011516016.1:c.627A>C	XP_011514318.1:p.Ile209=
XM_011516017.1:c.444A>C	XP_011514319.1:p.Ile148=
XM_011516018.1:c.417A>C	XP_011514320.1:p.Ile139=
XM_011516010.2:c.918A>C	XP_011514312.1:p.Ile306=
XM_011516011.2:c.918A>C	XP_011514313.1:p.Ile306=
XM_011516012.2:c.918A>C	XP_011514314.1:p.Ile306=
XM_011516013.2:c.918A>C	XP_011514315.1:p.Ile306=
XM_011516014.2:c.918A>C	XP_011514316.1:p.Ile306=
XM_011516017.2:c.444A>C	XP_011514319.1:p.Ile148=
XM_011516018.2:c.417A>C	XP_011514320.1:p.Ile139=
XM_017011951.2:c.918A>C	XP_016867440.1:p.Ile306=
NM_001127231.3:c.918A>C	NP_001120703.1:p.Ile306=
NM_015570.4:c.918A>C MANE Select	NP_056385.1:p.Ile306=