Canonical Allele Identifier: CA367668731

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70766155-G-A
• MyVariant Identifiers: chr7:g.70231141G>A (hg19) ; chr7:g.70766155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766155G>A , CM000669.2:g.70766155G>A	GRCh38
NC_000007.13:g.70231141G>A , CM000669.1:g.70231141G>A	GRCh37
NC_000007.12:g.69869077G>A	NCBI36
NG_034133.1:g.1172237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1510G>A MANE Select	ENSP00000344087.4:p.Ala504Thr
ENST00000443672.2:c.-156G>A	ENSP00000393548.2:n.-156G>A
ENST00000644359.1:c.136G>A	ENSP00000494561.1:p.Ala46Thr
ENST00000644506.1:c.136G>A	ENSP00000496672.1:p.Ala46Thr
ENST00000644939.1:c.1507G>A	ENSP00000496726.1:p.Ala503Thr
ENST00000647140.1:c.354G>A
ENST00000656200.1:c.136G>A	ENSP00000499508.1:p.Ala46Thr
ENST00000342771.8:c.1510G>A	ENSP00000344087.4:p.Ala504Thr
ENST00000406775.6:c.1510G>A	ENSP00000385263.2:p.Ala504Thr
ENST00000443672.1:c.135G>A
ENST00000481994.1:n.117G>A
ENST00000611706.4:c.766G>A	ENSP00000478134.1:p.Ala256Thr
ENST00000615871.4:c.766G>A	ENSP00000479325.1:p.Ala256Thr
NM_001127231.2:c.1510G>A	NP_001120703.1:p.Ala504Thr
NM_015570.3:c.1510G>A	NP_056385.1:p.Ala504Thr
XM_005250257.1:c.136G>A	XP_005250314.1:p.Ala46Thr
XM_011516010.1:c.1510G>A	XP_011514312.1:p.Ala504Thr
XM_011516011.1:c.1507G>A	XP_011514313.1:p.Ala503Thr
XM_011516012.1:c.1510G>A	XP_011514314.1:p.Ala504Thr
XM_011516013.1:c.1510G>A	XP_011514315.1:p.Ala504Thr
XM_011516014.1:c.1510G>A	XP_011514316.1:p.Ala504Thr
XM_011516015.1:c.1510G>A	XP_011514317.1:p.Ala504Thr
XM_011516016.1:c.1219G>A	XP_011514318.1:p.Ala407Thr
XM_011516017.1:c.1036G>A	XP_011514319.1:p.Ala346Thr
XM_011516018.1:c.1009G>A	XP_011514320.1:p.Ala337Thr
XM_005250257.2:c.136G>A	XP_005250314.1:p.Ala46Thr
XM_011516010.2:c.1510G>A	XP_011514312.1:p.Ala504Thr
XM_011516011.2:c.1507G>A	XP_011514313.1:p.Ala503Thr
XM_011516012.2:c.1510G>A	XP_011514314.1:p.Ala504Thr
XM_011516013.2:c.1510G>A	XP_011514315.1:p.Ala504Thr
XM_011516014.2:c.1510G>A	XP_011514316.1:p.Ala504Thr
XM_011516017.2:c.1036G>A	XP_011514319.1:p.Ala346Thr
XM_011516018.2:c.1009G>A	XP_011514320.1:p.Ala337Thr
XM_017011951.2:c.1510G>A	XP_016867440.1:p.Ala504Thr
NM_001127231.3:c.1510G>A	NP_001120703.1:p.Ala504Thr
NM_015570.4:c.1510G>A MANE Select	NP_056385.1:p.Ala504Thr