Canonical Allele Identifier: CA367669757

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242108C>T (hg19) ; chr7:g.70777122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777122C>T , CM000669.2:g.70777122C>T	GRCh38
NC_000007.13:g.70242108C>T , CM000669.1:g.70242108C>T	GRCh37
NC_000007.12:g.69880044C>T	NCBI36
NG_034133.1:g.1183204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.20C>T	ENSP00000514784.1:p.Ala7Val
ENST00000342771.10:c.1952C>T MANE Select	ENSP00000344087.4:p.Ala651Val
ENST00000439256.2:c.50C>T	ENSP00000407058.2:p.Ala17Val
ENST00000443672.2:c.287C>T	ENSP00000393548.2:p.Ala96Val
ENST00000449547.6:c.45C>T
ENST00000464768.2:n.620C>T
ENST00000644359.1:c.533C>T	ENSP00000494561.1:p.Ala178Val
ENST00000644506.1:c.578C>T	ENSP00000496672.1:p.Ala193Val
ENST00000644939.1:c.1949C>T	ENSP00000496726.1:p.Ala650Val
ENST00000644949.1:c.283C>T
ENST00000646136.1:n.263C>T
ENST00000647140.1:c.817C>T
ENST00000342771.8:c.1952C>T	ENSP00000344087.4:p.Ala651Val
ENST00000406775.6:c.1880C>T	ENSP00000385263.2:p.Ala627Val
ENST00000439256.1:c.50C>T
ENST00000443672.1:c.532C>T
ENST00000464768.1:n.618C>T
ENST00000465899.1:n.449C>T
ENST00000498384.5:n.320C>T
ENST00000611706.4:c.1208C>T	ENSP00000478134.1:p.Ala403Val
ENST00000615871.4:c.1136C>T	ENSP00000479325.1:p.Ala379Val
NM_001127231.2:c.1880C>T	NP_001120703.1:p.Ala627Val
NM_015570.3:c.1952C>T	NP_056385.1:p.Ala651Val
XM_005250257.1:c.599C>T	XP_005250314.1:p.Ala200Val
XM_011516010.1:c.1973C>T	XP_011514312.1:p.Ala658Val
XM_011516011.1:c.1970C>T	XP_011514313.1:p.Ala657Val
XM_011516012.1:c.1907C>T	XP_011514314.1:p.Ala636Val
XM_011516013.1:c.1901C>T	XP_011514315.1:p.Ala634Val
XM_011516014.1:c.1871C>T	XP_011514316.1:p.Ala624Val
XM_011516015.1:c.1709C>T	XP_011514317.1:p.Ala570Val
XM_011516016.1:c.1682C>T	XP_011514318.1:p.Ala561Val
XM_011516017.1:c.1499C>T	XP_011514319.1:p.Ala500Val
XM_011516018.1:c.1472C>T	XP_011514320.1:p.Ala491Val
XM_005250257.2:c.599C>T	XP_005250314.1:p.Ala200Val
XM_011516010.2:c.1973C>T	XP_011514312.1:p.Ala658Val
XM_011516011.2:c.1970C>T	XP_011514313.1:p.Ala657Val
XM_011516012.2:c.1907C>T	XP_011514314.1:p.Ala636Val
XM_011516013.2:c.1901C>T	XP_011514315.1:p.Ala634Val
XM_011516014.2:c.1871C>T	XP_011514316.1:p.Ala624Val
XM_011516017.2:c.1499C>T	XP_011514319.1:p.Ala500Val
XM_011516018.2:c.1472C>T	XP_011514320.1:p.Ala491Val
XM_017011951.2:c.1973C>T	XP_016867440.1:p.Ala658Val
NM_001127231.3:c.1880C>T	NP_001120703.1:p.Ala627Val
NM_015570.4:c.1952C>T MANE Select	NP_056385.1:p.Ala651Val