Canonical Allele Identifier: CA455802380

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70766259-G-A
• COSMIC: COSM291859
• MyVariant Identifiers: chr7:g.70231245G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766259G>A , CM000669.2:g.70766259G>A	GRCh38
NC_000007.13:g.70231245G>A , CM000669.1:g.70231245G>A	GRCh37
NC_000007.12:g.69869181G>A	NCBI36
NG_034133.1:g.1172341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1614G>A MANE Select	ENSP00000344087.4:p.Thr538=
ENST00000443672.2:c.-52G>A	ENSP00000393548.2:n.-52G>A
ENST00000644359.1:c.240G>A	ENSP00000494561.1:p.Thr80=
ENST00000644506.1:c.240G>A	ENSP00000496672.1:p.Thr80=
ENST00000644939.1:c.1611G>A	ENSP00000496726.1:p.Thr537=
ENST00000644949.1:c.26G>A
ENST00000647140.1:c.458G>A
ENST00000656200.1:c.240G>A	ENSP00000499508.1:p.Thr80=
ENST00000342771.8:c.1614G>A	ENSP00000344087.4:p.Thr538=
ENST00000406775.6:c.1614G>A	ENSP00000385263.2:p.Thr538=
ENST00000443672.1:c.239G>A
ENST00000481994.1:n.221G>A
ENST00000611706.4:c.870G>A	ENSP00000478134.1:p.Thr290=
ENST00000615871.4:c.870G>A	ENSP00000479325.1:p.Thr290=
NM_001127231.2:c.1614G>A	NP_001120703.1:p.Thr538=
NM_015570.3:c.1614G>A	NP_056385.1:p.Thr538=
XM_005250257.1:c.240G>A	XP_005250314.1:p.Thr80=
XM_011516010.1:c.1614G>A	XP_011514312.1:p.Thr538=
XM_011516011.1:c.1611G>A	XP_011514313.1:p.Thr537=
XM_011516012.1:c.1614G>A	XP_011514314.1:p.Thr538=
XM_011516013.1:c.1614G>A	XP_011514315.1:p.Thr538=
XM_011516014.1:c.1614G>A	XP_011514316.1:p.Thr538=
XM_011516015.1:c.1614G>A	XP_011514317.1:p.Thr538=
XM_011516016.1:c.1323G>A	XP_011514318.1:p.Thr441=
XM_011516017.1:c.1140G>A	XP_011514319.1:p.Thr380=
XM_011516018.1:c.1113G>A	XP_011514320.1:p.Thr371=
XM_005250257.2:c.240G>A	XP_005250314.1:p.Thr80=
XM_011516010.2:c.1614G>A	XP_011514312.1:p.Thr538=
XM_011516011.2:c.1611G>A	XP_011514313.1:p.Thr537=
XM_011516012.2:c.1614G>A	XP_011514314.1:p.Thr538=
XM_011516013.2:c.1614G>A	XP_011514315.1:p.Thr538=
XM_011516014.2:c.1614G>A	XP_011514316.1:p.Thr538=
XM_011516017.2:c.1140G>A	XP_011514319.1:p.Thr380=
XM_011516018.2:c.1113G>A	XP_011514320.1:p.Thr371=
XM_017011951.2:c.1614G>A	XP_016867440.1:p.Thr538=
NM_001127231.3:c.1614G>A	NP_001120703.1:p.Thr538=
NM_015570.4:c.1614G>A MANE Select	NP_056385.1:p.Thr538=