Canonical Allele Identifier: CA455803126

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242118T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777132T>A , CM000669.2:g.70777132T>A	GRCh38
NC_000007.13:g.70242118T>A , CM000669.1:g.70242118T>A	GRCh37
NC_000007.12:g.69880054T>A	NCBI36
NG_034133.1:g.1183214T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.30T>A	ENSP00000514784.1:p.Val10=
ENST00000342771.10:c.1962T>A MANE Select	ENSP00000344087.4:p.Val654=
ENST00000439256.2:c.60T>A	ENSP00000407058.2:p.Val20=
ENST00000443672.2:c.297T>A	ENSP00000393548.2:p.Val99=
ENST00000449547.6:c.55T>A
ENST00000464768.2:n.630T>A
ENST00000644359.1:c.543T>A	ENSP00000494561.1:p.Val181=
ENST00000644506.1:c.588T>A	ENSP00000496672.1:p.Val196=
ENST00000644939.1:c.1959T>A	ENSP00000496726.1:p.Val653=
ENST00000644949.1:c.293T>A
ENST00000646136.1:n.273T>A
ENST00000647140.1:c.827T>A
ENST00000342771.8:c.1962T>A	ENSP00000344087.4:p.Val654=
ENST00000406775.6:c.1890T>A	ENSP00000385263.2:p.Val630=
ENST00000439256.1:c.60T>A
ENST00000443672.1:c.542T>A
ENST00000464768.1:n.628T>A
ENST00000465899.1:n.459T>A
ENST00000498384.5:n.330T>A
ENST00000611706.4:c.1218T>A	ENSP00000478134.1:p.Val406=
ENST00000615871.4:c.1146T>A	ENSP00000479325.1:p.Val382=
NM_001127231.2:c.1890T>A	NP_001120703.1:p.Val630=
NM_015570.3:c.1962T>A	NP_056385.1:p.Val654=
XM_005250257.1:c.609T>A	XP_005250314.1:p.Val203=
XM_011516010.1:c.1983T>A	XP_011514312.1:p.Val661=
XM_011516011.1:c.1980T>A	XP_011514313.1:p.Val660=
XM_011516012.1:c.1917T>A	XP_011514314.1:p.Val639=
XM_011516013.1:c.1911T>A	XP_011514315.1:p.Val637=
XM_011516014.1:c.1881T>A	XP_011514316.1:p.Val627=
XM_011516015.1:c.1719T>A	XP_011514317.1:p.Val573=
XM_011516016.1:c.1692T>A	XP_011514318.1:p.Val564=
XM_011516017.1:c.1509T>A	XP_011514319.1:p.Val503=
XM_011516018.1:c.1482T>A	XP_011514320.1:p.Val494=
XM_005250257.2:c.609T>A	XP_005250314.1:p.Val203=
XM_011516010.2:c.1983T>A	XP_011514312.1:p.Val661=
XM_011516011.2:c.1980T>A	XP_011514313.1:p.Val660=
XM_011516012.2:c.1917T>A	XP_011514314.1:p.Val639=
XM_011516013.2:c.1911T>A	XP_011514315.1:p.Val637=
XM_011516014.2:c.1881T>A	XP_011514316.1:p.Val627=
XM_011516017.2:c.1509T>A	XP_011514319.1:p.Val503=
XM_011516018.2:c.1482T>A	XP_011514320.1:p.Val494=
XM_017011951.2:c.1983T>A	XP_016867440.1:p.Val661=
NM_001127231.3:c.1890T>A	NP_001120703.1:p.Val630=
NM_015570.4:c.1962T>A MANE Select	NP_056385.1:p.Val654=