Canonical Allele Identifier: CA367669832

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242140C>T (hg19) ; chr7:g.70777154C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777154C>T , CM000669.2:g.70777154C>T	GRCh38
NC_000007.13:g.70242140C>T , CM000669.1:g.70242140C>T	GRCh37
NC_000007.12:g.69880076C>T	NCBI36
NG_034133.1:g.1183236C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.52C>T	ENSP00000514784.1:p.His18Tyr
ENST00000342771.10:c.1984C>T MANE Select	ENSP00000344087.4:p.His662Tyr
ENST00000439256.2:c.82C>T	ENSP00000407058.2:p.His28Tyr
ENST00000443672.2:c.319C>T	ENSP00000393548.2:p.His107Tyr
ENST00000449547.6:c.77C>T
ENST00000464768.2:n.652C>T
ENST00000644359.1:c.565C>T	ENSP00000494561.1:p.His189Tyr
ENST00000644506.1:c.610C>T	ENSP00000496672.1:p.His204Tyr
ENST00000644939.1:c.1981C>T	ENSP00000496726.1:p.His661Tyr
ENST00000646136.1:n.295C>T
ENST00000647140.1:c.849C>T
ENST00000342771.8:c.1984C>T	ENSP00000344087.4:p.His662Tyr
ENST00000406775.6:c.1912C>T	ENSP00000385263.2:p.His638Tyr
ENST00000439256.1:c.82C>T
ENST00000464768.1:n.650C>T
ENST00000465899.1:n.481C>T
ENST00000498384.5:n.352C>T
ENST00000611706.4:c.1240C>T	ENSP00000478134.1:p.His414Tyr
ENST00000615871.4:c.1168C>T	ENSP00000479325.1:p.His390Tyr
NM_001127231.2:c.1912C>T	NP_001120703.1:p.His638Tyr
NM_015570.3:c.1984C>T	NP_056385.1:p.His662Tyr
XM_005250257.1:c.631C>T	XP_005250314.1:p.His211Tyr
XM_011516010.1:c.2005C>T	XP_011514312.1:p.His669Tyr
XM_011516011.1:c.2002C>T	XP_011514313.1:p.His668Tyr
XM_011516012.1:c.1939C>T	XP_011514314.1:p.His647Tyr
XM_011516013.1:c.1933C>T	XP_011514315.1:p.His645Tyr
XM_011516014.1:c.1903C>T	XP_011514316.1:p.His635Tyr
XM_011516015.1:c.1741C>T	XP_011514317.1:p.His581Tyr
XM_011516016.1:c.1714C>T	XP_011514318.1:p.His572Tyr
XM_011516017.1:c.1531C>T	XP_011514319.1:p.His511Tyr
XM_011516018.1:c.1504C>T	XP_011514320.1:p.His502Tyr
XM_005250257.2:c.631C>T	XP_005250314.1:p.His211Tyr
XM_011516010.2:c.2005C>T	XP_011514312.1:p.His669Tyr
XM_011516011.2:c.2002C>T	XP_011514313.1:p.His668Tyr
XM_011516012.2:c.1939C>T	XP_011514314.1:p.His647Tyr
XM_011516013.2:c.1933C>T	XP_011514315.1:p.His645Tyr
XM_011516014.2:c.1903C>T	XP_011514316.1:p.His635Tyr
XM_011516017.2:c.1531C>T	XP_011514319.1:p.His511Tyr
XM_011516018.2:c.1504C>T	XP_011514320.1:p.His502Tyr
XM_017011951.2:c.2005C>T	XP_016867440.1:p.His669Tyr
NM_001127231.3:c.1912C>T	NP_001120703.1:p.His638Tyr
NM_015570.4:c.1984C>T MANE Select	NP_056385.1:p.His662Tyr