Canonical Allele Identifier: CA367669711

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242090A>T (hg19) ; chr7:g.70777104A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777104A>T , CM000669.2:g.70777104A>T	GRCh38
NC_000007.13:g.70242090A>T , CM000669.1:g.70242090A>T	GRCh37
NC_000007.12:g.69880026A>T	NCBI36
NG_034133.1:g.1183186A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.2A>T	ENSP00000514784.1:p.Lys1Ile
ENST00000342771.10:c.1934A>T MANE Select	ENSP00000344087.4:p.Lys645Ile
ENST00000439256.2:c.32A>T	ENSP00000407058.2:p.Lys11Ile
ENST00000443672.2:c.269A>T	ENSP00000393548.2:p.Lys90Ile
ENST00000449547.6:c.27A>T
ENST00000464768.2:n.602A>T
ENST00000644359.1:c.515A>T	ENSP00000494561.1:p.Lys172Ile
ENST00000644506.1:c.560A>T	ENSP00000496672.1:p.Lys187Ile
ENST00000644939.1:c.1931A>T	ENSP00000496726.1:p.Lys644Ile
ENST00000644949.1:c.265A>T
ENST00000646136.1:n.245A>T
ENST00000647140.1:c.799A>T
ENST00000342771.8:c.1934A>T	ENSP00000344087.4:p.Lys645Ile
ENST00000406775.6:c.1862A>T	ENSP00000385263.2:p.Lys621Ile
ENST00000439256.1:c.32A>T
ENST00000443672.1:c.514A>T
ENST00000464768.1:n.600A>T
ENST00000465899.1:n.431A>T
ENST00000498384.5:n.302A>T
ENST00000611706.4:c.1190A>T	ENSP00000478134.1:p.Lys397Ile
ENST00000615871.4:c.1118A>T	ENSP00000479325.1:p.Lys373Ile
NM_001127231.2:c.1862A>T	NP_001120703.1:p.Lys621Ile
NM_015570.3:c.1934A>T	NP_056385.1:p.Lys645Ile
XM_005250257.1:c.581A>T	XP_005250314.1:p.Lys194Ile
XM_011516010.1:c.1955A>T	XP_011514312.1:p.Lys652Ile
XM_011516011.1:c.1952A>T	XP_011514313.1:p.Lys651Ile
XM_011516012.1:c.1889A>T	XP_011514314.1:p.Lys630Ile
XM_011516013.1:c.1883A>T	XP_011514315.1:p.Lys628Ile
XM_011516014.1:c.1853A>T	XP_011514316.1:p.Lys618Ile
XM_011516015.1:c.1691A>T	XP_011514317.1:p.Lys564Ile
XM_011516016.1:c.1664A>T	XP_011514318.1:p.Lys555Ile
XM_011516017.1:c.1481A>T	XP_011514319.1:p.Lys494Ile
XM_011516018.1:c.1454A>T	XP_011514320.1:p.Lys485Ile
XM_005250257.2:c.581A>T	XP_005250314.1:p.Lys194Ile
XM_011516010.2:c.1955A>T	XP_011514312.1:p.Lys652Ile
XM_011516011.2:c.1952A>T	XP_011514313.1:p.Lys651Ile
XM_011516012.2:c.1889A>T	XP_011514314.1:p.Lys630Ile
XM_011516013.2:c.1883A>T	XP_011514315.1:p.Lys628Ile
XM_011516014.2:c.1853A>T	XP_011514316.1:p.Lys618Ile
XM_011516017.2:c.1481A>T	XP_011514319.1:p.Lys494Ile
XM_011516018.2:c.1454A>T	XP_011514320.1:p.Lys485Ile
XM_017011951.2:c.1955A>T	XP_016867440.1:p.Lys652Ile
NM_001127231.3:c.1862A>T	NP_001120703.1:p.Lys621Ile
NM_015570.4:c.1934A>T MANE Select	NP_056385.1:p.Lys645Ile