Canonical Allele Identifier: CA4280691

Gene: AUTS2

Linked Data

• dbSNP Id: rs778439465
• ExAC: 7:70231155 T / C
• gnomAD v2: 7-70231155-T-C
• gnomAD v4: 7-70766169-T-C
• MyVariant Identifiers: chr7:g.70231155T>C (hg19) ; chr7:g.70766169T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766169T>C , CM000669.2:g.70766169T>C	GRCh38
NC_000007.13:g.70231155T>C , CM000669.1:g.70231155T>C	GRCh37
NC_000007.12:g.69869091T>C	NCBI36
NG_034133.1:g.1172251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1524T>C MANE Select	ENSP00000344087.4:p.Ala508=
ENST00000443672.2:c.-142T>C	ENSP00000393548.2:n.-142T>C
ENST00000644359.1:c.150T>C	ENSP00000494561.1:p.Ala50=
ENST00000644506.1:c.150T>C	ENSP00000496672.1:p.Ala50=
ENST00000644939.1:c.1521T>C	ENSP00000496726.1:p.Ala507=
ENST00000647140.1:c.368T>C
ENST00000656200.1:c.150T>C	ENSP00000499508.1:p.Ala50=
ENST00000342771.8:c.1524T>C	ENSP00000344087.4:p.Ala508=
ENST00000406775.6:c.1524T>C	ENSP00000385263.2:p.Ala508=
ENST00000443672.1:c.149T>C
ENST00000481994.1:n.131T>C
ENST00000611706.4:c.780T>C	ENSP00000478134.1:p.Ala260=
ENST00000615871.4:c.780T>C	ENSP00000479325.1:p.Ala260=
NM_001127231.2:c.1524T>C	NP_001120703.1:p.Ala508=
NM_015570.3:c.1524T>C	NP_056385.1:p.Ala508=
XM_005250257.1:c.150T>C	XP_005250314.1:p.Ala50=
XM_011516010.1:c.1524T>C	XP_011514312.1:p.Ala508=
XM_011516011.1:c.1521T>C	XP_011514313.1:p.Ala507=
XM_011516012.1:c.1524T>C	XP_011514314.1:p.Ala508=
XM_011516013.1:c.1524T>C	XP_011514315.1:p.Ala508=
XM_011516014.1:c.1524T>C	XP_011514316.1:p.Ala508=
XM_011516015.1:c.1524T>C	XP_011514317.1:p.Ala508=
XM_011516016.1:c.1233T>C	XP_011514318.1:p.Ala411=
XM_011516017.1:c.1050T>C	XP_011514319.1:p.Ala350=
XM_011516018.1:c.1023T>C	XP_011514320.1:p.Ala341=
XM_005250257.2:c.150T>C	XP_005250314.1:p.Ala50=
XM_011516010.2:c.1524T>C	XP_011514312.1:p.Ala508=
XM_011516011.2:c.1521T>C	XP_011514313.1:p.Ala507=
XM_011516012.2:c.1524T>C	XP_011514314.1:p.Ala508=
XM_011516013.2:c.1524T>C	XP_011514315.1:p.Ala508=
XM_011516014.2:c.1524T>C	XP_011514316.1:p.Ala508=
XM_011516017.2:c.1050T>C	XP_011514319.1:p.Ala350=
XM_011516018.2:c.1023T>C	XP_011514320.1:p.Ala341=
XM_017011951.2:c.1524T>C	XP_016867440.1:p.Ala508=
NM_001127231.3:c.1524T>C	NP_001120703.1:p.Ala508=
NM_015570.4:c.1524T>C MANE Select	NP_056385.1:p.Ala508=