Canonical Allele Identifier: CA367669709

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242089A>G (hg19) ; chr7:g.70777103A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777103A>G , CM000669.2:g.70777103A>G	GRCh38
NC_000007.13:g.70242089A>G , CM000669.1:g.70242089A>G	GRCh37
NC_000007.12:g.69880025A>G	NCBI36
NG_034133.1:g.1183185A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.1A>G	ENSP00000514784.1:p.Lys1Glu
ENST00000342771.10:c.1933A>G MANE Select	ENSP00000344087.4:p.Lys645Glu
ENST00000439256.2:c.31A>G	ENSP00000407058.2:p.Lys11Glu
ENST00000443672.2:c.268A>G	ENSP00000393548.2:p.Lys90Glu
ENST00000449547.6:c.26A>G
ENST00000464768.2:n.601A>G
ENST00000644359.1:c.514A>G	ENSP00000494561.1:p.Lys172Glu
ENST00000644506.1:c.559A>G	ENSP00000496672.1:p.Lys187Glu
ENST00000644939.1:c.1930A>G	ENSP00000496726.1:p.Lys644Glu
ENST00000644949.1:c.264A>G
ENST00000646136.1:n.244A>G
ENST00000647140.1:c.798A>G
ENST00000342771.8:c.1933A>G	ENSP00000344087.4:p.Lys645Glu
ENST00000406775.6:c.1861A>G	ENSP00000385263.2:p.Lys621Glu
ENST00000439256.1:c.31A>G
ENST00000443672.1:c.513A>G
ENST00000464768.1:n.599A>G
ENST00000465899.1:n.430A>G
ENST00000498384.5:n.301A>G
ENST00000611706.4:c.1189A>G	ENSP00000478134.1:p.Lys397Glu
ENST00000615871.4:c.1117A>G	ENSP00000479325.1:p.Lys373Glu
NM_001127231.2:c.1861A>G	NP_001120703.1:p.Lys621Glu
NM_015570.3:c.1933A>G	NP_056385.1:p.Lys645Glu
XM_005250257.1:c.580A>G	XP_005250314.1:p.Lys194Glu
XM_011516010.1:c.1954A>G	XP_011514312.1:p.Lys652Glu
XM_011516011.1:c.1951A>G	XP_011514313.1:p.Lys651Glu
XM_011516012.1:c.1888A>G	XP_011514314.1:p.Lys630Glu
XM_011516013.1:c.1882A>G	XP_011514315.1:p.Lys628Glu
XM_011516014.1:c.1852A>G	XP_011514316.1:p.Lys618Glu
XM_011516015.1:c.1690A>G	XP_011514317.1:p.Lys564Glu
XM_011516016.1:c.1663A>G	XP_011514318.1:p.Lys555Glu
XM_011516017.1:c.1480A>G	XP_011514319.1:p.Lys494Glu
XM_011516018.1:c.1453A>G	XP_011514320.1:p.Lys485Glu
XM_005250257.2:c.580A>G	XP_005250314.1:p.Lys194Glu
XM_011516010.2:c.1954A>G	XP_011514312.1:p.Lys652Glu
XM_011516011.2:c.1951A>G	XP_011514313.1:p.Lys651Glu
XM_011516012.2:c.1888A>G	XP_011514314.1:p.Lys630Glu
XM_011516013.2:c.1882A>G	XP_011514315.1:p.Lys628Glu
XM_011516014.2:c.1852A>G	XP_011514316.1:p.Lys618Glu
XM_011516017.2:c.1480A>G	XP_011514319.1:p.Lys494Glu
XM_011516018.2:c.1453A>G	XP_011514320.1:p.Lys485Glu
XM_017011951.2:c.1954A>G	XP_016867440.1:p.Lys652Glu
NM_001127231.3:c.1861A>G	NP_001120703.1:p.Lys621Glu
NM_015570.4:c.1933A>G MANE Select	NP_056385.1:p.Lys645Glu