Canonical Allele Identifier: CA367669726

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242096G>T (hg19) ; chr7:g.70777110G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777110G>T , CM000669.2:g.70777110G>T	GRCh38
NC_000007.13:g.70242096G>T , CM000669.1:g.70242096G>T	GRCh37
NC_000007.12:g.69880032G>T	NCBI36
NG_034133.1:g.1183192G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.8G>T	ENSP00000514784.1:p.Gly3Val
ENST00000342771.10:c.1940G>T MANE Select	ENSP00000344087.4:p.Gly647Val
ENST00000439256.2:c.38G>T	ENSP00000407058.2:p.Gly13Val
ENST00000443672.2:c.275G>T	ENSP00000393548.2:p.Gly92Val
ENST00000449547.6:c.33G>T
ENST00000464768.2:n.608G>T
ENST00000644359.1:c.521G>T	ENSP00000494561.1:p.Gly174Val
ENST00000644506.1:c.566G>T	ENSP00000496672.1:p.Gly189Val
ENST00000644939.1:c.1937G>T	ENSP00000496726.1:p.Gly646Val
ENST00000644949.1:c.271G>T
ENST00000646136.1:n.251G>T
ENST00000647140.1:c.805G>T
ENST00000342771.8:c.1940G>T	ENSP00000344087.4:p.Gly647Val
ENST00000406775.6:c.1868G>T	ENSP00000385263.2:p.Gly623Val
ENST00000439256.1:c.38G>T
ENST00000443672.1:c.520G>T
ENST00000464768.1:n.606G>T
ENST00000465899.1:n.437G>T
ENST00000498384.5:n.308G>T
ENST00000611706.4:c.1196G>T	ENSP00000478134.1:p.Gly399Val
ENST00000615871.4:c.1124G>T	ENSP00000479325.1:p.Gly375Val
NM_001127231.2:c.1868G>T	NP_001120703.1:p.Gly623Val
NM_015570.3:c.1940G>T	NP_056385.1:p.Gly647Val
XM_005250257.1:c.587G>T	XP_005250314.1:p.Gly196Val
XM_011516010.1:c.1961G>T	XP_011514312.1:p.Gly654Val
XM_011516011.1:c.1958G>T	XP_011514313.1:p.Gly653Val
XM_011516012.1:c.1895G>T	XP_011514314.1:p.Gly632Val
XM_011516013.1:c.1889G>T	XP_011514315.1:p.Gly630Val
XM_011516014.1:c.1859G>T	XP_011514316.1:p.Gly620Val
XM_011516015.1:c.1697G>T	XP_011514317.1:p.Gly566Val
XM_011516016.1:c.1670G>T	XP_011514318.1:p.Gly557Val
XM_011516017.1:c.1487G>T	XP_011514319.1:p.Gly496Val
XM_011516018.1:c.1460G>T	XP_011514320.1:p.Gly487Val
XM_005250257.2:c.587G>T	XP_005250314.1:p.Gly196Val
XM_011516010.2:c.1961G>T	XP_011514312.1:p.Gly654Val
XM_011516011.2:c.1958G>T	XP_011514313.1:p.Gly653Val
XM_011516012.2:c.1895G>T	XP_011514314.1:p.Gly632Val
XM_011516013.2:c.1889G>T	XP_011514315.1:p.Gly630Val
XM_011516014.2:c.1859G>T	XP_011514316.1:p.Gly620Val
XM_011516017.2:c.1487G>T	XP_011514319.1:p.Gly496Val
XM_011516018.2:c.1460G>T	XP_011514320.1:p.Gly487Val
XM_017011951.2:c.1961G>T	XP_016867440.1:p.Gly654Val
NM_001127231.3:c.1868G>T	NP_001120703.1:p.Gly623Val
NM_015570.4:c.1940G>T MANE Select	NP_056385.1:p.Gly647Val