Canonical Allele Identifier: CA367662991

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70246601A>T (hg19) ; chr7:g.70781615A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70781615A>T , CM000669.2:g.70781615A>T	GRCh38
NC_000007.13:g.70246601A>T , CM000669.1:g.70246601A>T	GRCh37
NC_000007.12:g.69884537A>T	NCBI36
NG_034133.1:g.1187697A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.73-3327A>T	ENSP00000514784.1:n.73-3327A>T
ENST00000342771.10:c.2005A>T MANE Select	ENSP00000344087.4:p.Lys669Ter
ENST00000439256.2:c.146A>T	ENSP00000407058.2:n.146A>T
ENST00000443672.2:c.340A>T	ENSP00000393548.2:p.Lys114Ter
ENST00000449547.6:c.98A>T
ENST00000464768.2:n.673A>T
ENST00000644359.1:c.586A>T	ENSP00000494561.1:p.Lys196Ter
ENST00000644506.1:c.631A>T	ENSP00000496672.1:p.Lys211Ter
ENST00000644939.1:c.2002A>T	ENSP00000496726.1:p.Lys668Ter
ENST00000646136.1:n.316-6A>T
ENST00000647121.1:n.146A>T
ENST00000647140.1:c.870A>T
ENST00000342771.8:c.2005A>T	ENSP00000344087.4:p.Lys669Ter
ENST00000406775.6:c.1933A>T	ENSP00000385263.2:p.Lys645Ter
ENST00000439256.1:c.146A>T
ENST00000464768.1:n.671A>T
ENST00000465899.1:n.502A>T
ENST00000498384.5:n.373A>T
ENST00000611706.4:c.1261A>T	ENSP00000478134.1:p.Lys421Ter
ENST00000615871.4:c.1189A>T	ENSP00000479325.1:p.Lys397Ter
NM_001127231.2:c.1933A>T	NP_001120703.1:p.Lys645Ter
NM_015570.3:c.2005A>T	NP_056385.1:p.Lys669Ter
XM_005250257.1:c.652A>T	XP_005250314.1:p.Lys218Ter
XM_011516010.1:c.2026A>T	XP_011514312.1:p.Lys676Ter
XM_011516011.1:c.2023A>T	XP_011514313.1:p.Lys675Ter
XM_011516012.1:c.1960A>T	XP_011514314.1:p.Lys654Ter
XM_011516013.1:c.1954A>T	XP_011514315.1:p.Lys652Ter
XM_011516014.1:c.1924A>T	XP_011514316.1:p.Lys642Ter
XM_011516015.1:c.1762A>T	XP_011514317.1:p.Lys588Ter
XM_011516016.1:c.1735A>T	XP_011514318.1:p.Lys579Ter
XM_011516017.1:c.1552A>T	XP_011514319.1:p.Lys518Ter
XM_011516018.1:c.1525A>T	XP_011514320.1:p.Lys509Ter
XM_005250257.2:c.652A>T	XP_005250314.1:p.Lys218Ter
XM_011516010.2:c.2026A>T	XP_011514312.1:p.Lys676Ter
XM_011516011.2:c.2023A>T	XP_011514313.1:p.Lys675Ter
XM_011516012.2:c.1960A>T	XP_011514314.1:p.Lys654Ter
XM_011516013.2:c.1954A>T	XP_011514315.1:p.Lys652Ter
XM_011516014.2:c.1924A>T	XP_011514316.1:p.Lys642Ter
XM_011516017.2:c.1552A>T	XP_011514319.1:p.Lys518Ter
XM_011516018.2:c.1525A>T	XP_011514320.1:p.Lys509Ter
XM_017011951.2:c.2026A>T	XP_016867440.1:p.Lys676Ter
NM_001127231.3:c.1933A>T	NP_001120703.1:p.Lys645Ter
NM_015570.4:c.2005A>T MANE Select	NP_056385.1:p.Lys669Ter