Canonical Allele Identifier: CA4280857

Gene: AUTS2

Linked Data

• dbSNP Id: rs767148078
• ExAC: 7:70242100 G / A
• gnomAD v2: 7-70242100-G-A
• gnomAD v4: 7-70777114-G-A
• MyVariant Identifiers: chr7:g.70242100G>A (hg19) ; chr7:g.70777114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777114G>A , CM000669.2:g.70777114G>A	GRCh38
NC_000007.13:g.70242100G>A , CM000669.1:g.70242100G>A	GRCh37
NC_000007.12:g.69880036G>A	NCBI36
NG_034133.1:g.1183196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.12G>A	ENSP00000514784.1:p.Lys4=
ENST00000342771.10:c.1944G>A MANE Select	ENSP00000344087.4:p.Lys648=
ENST00000439256.2:c.42G>A	ENSP00000407058.2:p.Lys14=
ENST00000443672.2:c.279G>A	ENSP00000393548.2:p.Lys93=
ENST00000449547.6:c.37G>A
ENST00000464768.2:n.612G>A
ENST00000644359.1:c.525G>A	ENSP00000494561.1:p.Lys175=
ENST00000644506.1:c.570G>A	ENSP00000496672.1:p.Lys190=
ENST00000644939.1:c.1941G>A	ENSP00000496726.1:p.Lys647=
ENST00000644949.1:c.275G>A
ENST00000646136.1:n.255G>A
ENST00000647140.1:c.809G>A
ENST00000342771.8:c.1944G>A	ENSP00000344087.4:p.Lys648=
ENST00000406775.6:c.1872G>A	ENSP00000385263.2:p.Lys624=
ENST00000439256.1:c.42G>A
ENST00000443672.1:c.524G>A
ENST00000464768.1:n.610G>A
ENST00000465899.1:n.441G>A
ENST00000498384.5:n.312G>A
ENST00000611706.4:c.1200G>A	ENSP00000478134.1:p.Lys400=
ENST00000615871.4:c.1128G>A	ENSP00000479325.1:p.Lys376=
NM_001127231.2:c.1872G>A	NP_001120703.1:p.Lys624=
NM_015570.3:c.1944G>A	NP_056385.1:p.Lys648=
XM_005250257.1:c.591G>A	XP_005250314.1:p.Lys197=
XM_011516010.1:c.1965G>A	XP_011514312.1:p.Lys655=
XM_011516011.1:c.1962G>A	XP_011514313.1:p.Lys654=
XM_011516012.1:c.1899G>A	XP_011514314.1:p.Lys633=
XM_011516013.1:c.1893G>A	XP_011514315.1:p.Lys631=
XM_011516014.1:c.1863G>A	XP_011514316.1:p.Lys621=
XM_011516015.1:c.1701G>A	XP_011514317.1:p.Lys567=
XM_011516016.1:c.1674G>A	XP_011514318.1:p.Lys558=
XM_011516017.1:c.1491G>A	XP_011514319.1:p.Lys497=
XM_011516018.1:c.1464G>A	XP_011514320.1:p.Lys488=
XM_005250257.2:c.591G>A	XP_005250314.1:p.Lys197=
XM_011516010.2:c.1965G>A	XP_011514312.1:p.Lys655=
XM_011516011.2:c.1962G>A	XP_011514313.1:p.Lys654=
XM_011516012.2:c.1899G>A	XP_011514314.1:p.Lys633=
XM_011516013.2:c.1893G>A	XP_011514315.1:p.Lys631=
XM_011516014.2:c.1863G>A	XP_011514316.1:p.Lys621=
XM_011516017.2:c.1491G>A	XP_011514319.1:p.Lys497=
XM_011516018.2:c.1464G>A	XP_011514320.1:p.Lys488=
XM_017011951.2:c.1965G>A	XP_016867440.1:p.Lys655=
NM_001127231.3:c.1872G>A	NP_001120703.1:p.Lys624=
NM_015570.4:c.1944G>A MANE Select	NP_056385.1:p.Lys648=