Canonical Allele Identifier: CA367669777

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242117T>A (hg19) ; chr7:g.70777131T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777131T>A , CM000669.2:g.70777131T>A	GRCh38
NC_000007.13:g.70242117T>A , CM000669.1:g.70242117T>A	GRCh37
NC_000007.12:g.69880053T>A	NCBI36
NG_034133.1:g.1183213T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.29T>A	ENSP00000514784.1:p.Val10Asp
ENST00000342771.10:c.1961T>A MANE Select	ENSP00000344087.4:p.Val654Asp
ENST00000439256.2:c.59T>A	ENSP00000407058.2:p.Val20Asp
ENST00000443672.2:c.296T>A	ENSP00000393548.2:p.Val99Asp
ENST00000449547.6:c.54T>A
ENST00000464768.2:n.629T>A
ENST00000644359.1:c.542T>A	ENSP00000494561.1:p.Val181Asp
ENST00000644506.1:c.587T>A	ENSP00000496672.1:p.Val196Asp
ENST00000644939.1:c.1958T>A	ENSP00000496726.1:p.Val653Asp
ENST00000644949.1:c.292T>A
ENST00000646136.1:n.272T>A
ENST00000647140.1:c.826T>A
ENST00000342771.8:c.1961T>A	ENSP00000344087.4:p.Val654Asp
ENST00000406775.6:c.1889T>A	ENSP00000385263.2:p.Val630Asp
ENST00000439256.1:c.59T>A
ENST00000443672.1:c.541T>A
ENST00000464768.1:n.627T>A
ENST00000465899.1:n.458T>A
ENST00000498384.5:n.329T>A
ENST00000611706.4:c.1217T>A	ENSP00000478134.1:p.Val406Asp
ENST00000615871.4:c.1145T>A	ENSP00000479325.1:p.Val382Asp
NM_001127231.2:c.1889T>A	NP_001120703.1:p.Val630Asp
NM_015570.3:c.1961T>A	NP_056385.1:p.Val654Asp
XM_005250257.1:c.608T>A	XP_005250314.1:p.Val203Asp
XM_011516010.1:c.1982T>A	XP_011514312.1:p.Val661Asp
XM_011516011.1:c.1979T>A	XP_011514313.1:p.Val660Asp
XM_011516012.1:c.1916T>A	XP_011514314.1:p.Val639Asp
XM_011516013.1:c.1910T>A	XP_011514315.1:p.Val637Asp
XM_011516014.1:c.1880T>A	XP_011514316.1:p.Val627Asp
XM_011516015.1:c.1718T>A	XP_011514317.1:p.Val573Asp
XM_011516016.1:c.1691T>A	XP_011514318.1:p.Val564Asp
XM_011516017.1:c.1508T>A	XP_011514319.1:p.Val503Asp
XM_011516018.1:c.1481T>A	XP_011514320.1:p.Val494Asp
XM_005250257.2:c.608T>A	XP_005250314.1:p.Val203Asp
XM_011516010.2:c.1982T>A	XP_011514312.1:p.Val661Asp
XM_011516011.2:c.1979T>A	XP_011514313.1:p.Val660Asp
XM_011516012.2:c.1916T>A	XP_011514314.1:p.Val639Asp
XM_011516013.2:c.1910T>A	XP_011514315.1:p.Val637Asp
XM_011516014.2:c.1880T>A	XP_011514316.1:p.Val627Asp
XM_011516017.2:c.1508T>A	XP_011514319.1:p.Val503Asp
XM_011516018.2:c.1481T>A	XP_011514320.1:p.Val494Asp
XM_017011951.2:c.1982T>A	XP_016867440.1:p.Val661Asp
NM_001127231.3:c.1889T>A	NP_001120703.1:p.Val630Asp
NM_015570.4:c.1961T>A MANE Select	NP_056385.1:p.Val654Asp