Canonical Allele Identifier: CA367669872

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242156T>A (hg19) ; chr7:g.70777170T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777170T>A , CM000669.2:g.70777170T>A	GRCh38
NC_000007.13:g.70242156T>A , CM000669.1:g.70242156T>A	GRCh37
NC_000007.12:g.69880092T>A	NCBI36
NG_034133.1:g.1183252T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.68T>A	ENSP00000514784.1:p.Val23Asp
ENST00000342771.10:c.2000T>A MANE Select	ENSP00000344087.4:p.Val667Asp
ENST00000439256.2:c.98T>A	ENSP00000407058.2:p.Val33Asp
ENST00000443672.2:c.335T>A	ENSP00000393548.2:p.Val112Asp
ENST00000449547.6:c.93T>A
ENST00000464768.2:n.668T>A
ENST00000644359.1:c.581T>A	ENSP00000494561.1:p.Val194Asp
ENST00000644506.1:c.626T>A	ENSP00000496672.1:p.Val209Asp
ENST00000644939.1:c.1997T>A	ENSP00000496726.1:p.Val666Asp
ENST00000646136.1:n.311T>A
ENST00000647140.1:c.865T>A
ENST00000342771.8:c.2000T>A	ENSP00000344087.4:p.Val667Asp
ENST00000406775.6:c.1928T>A	ENSP00000385263.2:p.Val643Asp
ENST00000439256.1:c.98T>A
ENST00000464768.1:n.666T>A
ENST00000465899.1:n.497T>A
ENST00000498384.5:n.368T>A
ENST00000611706.4:c.1256T>A	ENSP00000478134.1:p.Val419Asp
ENST00000615871.4:c.1184T>A	ENSP00000479325.1:p.Val395Asp
NM_001127231.2:c.1928T>A	NP_001120703.1:p.Val643Asp
NM_015570.3:c.2000T>A	NP_056385.1:p.Val667Asp
XM_005250257.1:c.647T>A	XP_005250314.1:p.Val216Asp
XM_011516010.1:c.2021T>A	XP_011514312.1:p.Val674Asp
XM_011516011.1:c.2018T>A	XP_011514313.1:p.Val673Asp
XM_011516012.1:c.1955T>A	XP_011514314.1:p.Val652Asp
XM_011516013.1:c.1949T>A	XP_011514315.1:p.Val650Asp
XM_011516014.1:c.1919T>A	XP_011514316.1:p.Val640Asp
XM_011516015.1:c.1757T>A	XP_011514317.1:p.Val586Asp
XM_011516016.1:c.1730T>A	XP_011514318.1:p.Val577Asp
XM_011516017.1:c.1547T>A	XP_011514319.1:p.Val516Asp
XM_011516018.1:c.1520T>A	XP_011514320.1:p.Val507Asp
XM_005250257.2:c.647T>A	XP_005250314.1:p.Val216Asp
XM_011516010.2:c.2021T>A	XP_011514312.1:p.Val674Asp
XM_011516011.2:c.2018T>A	XP_011514313.1:p.Val673Asp
XM_011516012.2:c.1955T>A	XP_011514314.1:p.Val652Asp
XM_011516013.2:c.1949T>A	XP_011514315.1:p.Val650Asp
XM_011516014.2:c.1919T>A	XP_011514316.1:p.Val640Asp
XM_011516017.2:c.1547T>A	XP_011514319.1:p.Val516Asp
XM_011516018.2:c.1520T>A	XP_011514320.1:p.Val507Asp
XM_017011951.2:c.2021T>A	XP_016867440.1:p.Val674Asp
NM_001127231.3:c.1928T>A	NP_001120703.1:p.Val643Asp
NM_015570.4:c.2000T>A MANE Select	NP_056385.1:p.Val667Asp