Canonical Allele Identifier: CA367669708

Gene: AUTS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.1A>T	ENSP00000514784.1:p.Lys1Ter
ENST00000342771.10:c.1933A>T MANE Select	ENSP00000344087.4:p.Lys645Ter
ENST00000439256.2:c.31A>T	ENSP00000407058.2:p.Lys11Ter
ENST00000443672.2:c.268A>T	ENSP00000393548.2:p.Lys90Ter
ENST00000449547.6:c.26A>T
ENST00000464768.2:n.601A>T
ENST00000644359.1:c.514A>T	ENSP00000494561.1:p.Lys172Ter
ENST00000644506.1:c.559A>T	ENSP00000496672.1:p.Lys187Ter
ENST00000644939.1:c.1930A>T	ENSP00000496726.1:p.Lys644Ter
ENST00000644949.1:c.264A>T
ENST00000646136.1:n.244A>T
ENST00000647140.1:c.798A>T
ENST00000342771.8:c.1933A>T	ENSP00000344087.4:p.Lys645Ter
ENST00000406775.6:c.1861A>T	ENSP00000385263.2:p.Lys621Ter
ENST00000439256.1:c.31A>T
ENST00000443672.1:c.513A>T
ENST00000464768.1:n.599A>T
ENST00000465899.1:n.430A>T
ENST00000498384.5:n.301A>T
ENST00000611706.4:c.1189A>T	ENSP00000478134.1:p.Lys397Ter
ENST00000615871.4:c.1117A>T	ENSP00000479325.1:p.Lys373Ter
NM_001127231.2:c.1861A>T	NP_001120703.1:p.Lys621Ter
NM_015570.3:c.1933A>T	NP_056385.1:p.Lys645Ter
XM_005250257.1:c.580A>T	XP_005250314.1:p.Lys194Ter
XM_011516010.1:c.1954A>T	XP_011514312.1:p.Lys652Ter
XM_011516011.1:c.1951A>T	XP_011514313.1:p.Lys651Ter
XM_011516012.1:c.1888A>T	XP_011514314.1:p.Lys630Ter
XM_011516013.1:c.1882A>T	XP_011514315.1:p.Lys628Ter
XM_011516014.1:c.1852A>T	XP_011514316.1:p.Lys618Ter
XM_011516015.1:c.1690A>T	XP_011514317.1:p.Lys564Ter
XM_011516016.1:c.1663A>T	XP_011514318.1:p.Lys555Ter
XM_011516017.1:c.1480A>T	XP_011514319.1:p.Lys494Ter
XM_011516018.1:c.1453A>T	XP_011514320.1:p.Lys485Ter
XM_005250257.2:c.580A>T	XP_005250314.1:p.Lys194Ter
XM_011516010.2:c.1954A>T	XP_011514312.1:p.Lys652Ter
XM_011516011.2:c.1951A>T	XP_011514313.1:p.Lys651Ter
XM_011516012.2:c.1888A>T	XP_011514314.1:p.Lys630Ter
XM_011516013.2:c.1882A>T	XP_011514315.1:p.Lys628Ter
XM_011516014.2:c.1852A>T	XP_011514316.1:p.Lys618Ter
XM_011516017.2:c.1480A>T	XP_011514319.1:p.Lys494Ter
XM_011516018.2:c.1453A>T	XP_011514320.1:p.Lys485Ter
XM_017011951.2:c.1954A>T	XP_016867440.1:p.Lys652Ter
NM_001127231.3:c.1861A>T	NP_001120703.1:p.Lys621Ter
NM_015570.4:c.1933A>T MANE Select	NP_056385.1:p.Lys645Ter