Canonical Allele Identifier: CA455803140

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242142C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777156C>T , CM000669.2:g.70777156C>T	GRCh38
NC_000007.13:g.70242142C>T , CM000669.1:g.70242142C>T	GRCh37
NC_000007.12:g.69880078C>T	NCBI36
NG_034133.1:g.1183238C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.54C>T	ENSP00000514784.1:p.His18=
ENST00000342771.10:c.1986C>T MANE Select	ENSP00000344087.4:p.His662=
ENST00000439256.2:c.84C>T	ENSP00000407058.2:p.His28=
ENST00000443672.2:c.321C>T	ENSP00000393548.2:p.His107=
ENST00000449547.6:c.79C>T
ENST00000464768.2:n.654C>T
ENST00000644359.1:c.567C>T	ENSP00000494561.1:p.His189=
ENST00000644506.1:c.612C>T	ENSP00000496672.1:p.His204=
ENST00000644939.1:c.1983C>T	ENSP00000496726.1:p.His661=
ENST00000646136.1:n.297C>T
ENST00000647140.1:c.851C>T
ENST00000342771.8:c.1986C>T	ENSP00000344087.4:p.His662=
ENST00000406775.6:c.1914C>T	ENSP00000385263.2:p.His638=
ENST00000439256.1:c.84C>T
ENST00000464768.1:n.652C>T
ENST00000465899.1:n.483C>T
ENST00000498384.5:n.354C>T
ENST00000611706.4:c.1242C>T	ENSP00000478134.1:p.His414=
ENST00000615871.4:c.1170C>T	ENSP00000479325.1:p.His390=
NM_001127231.2:c.1914C>T	NP_001120703.1:p.His638=
NM_015570.3:c.1986C>T	NP_056385.1:p.His662=
XM_005250257.1:c.633C>T	XP_005250314.1:p.His211=
XM_011516010.1:c.2007C>T	XP_011514312.1:p.His669=
XM_011516011.1:c.2004C>T	XP_011514313.1:p.His668=
XM_011516012.1:c.1941C>T	XP_011514314.1:p.His647=
XM_011516013.1:c.1935C>T	XP_011514315.1:p.His645=
XM_011516014.1:c.1905C>T	XP_011514316.1:p.His635=
XM_011516015.1:c.1743C>T	XP_011514317.1:p.His581=
XM_011516016.1:c.1716C>T	XP_011514318.1:p.His572=
XM_011516017.1:c.1533C>T	XP_011514319.1:p.His511=
XM_011516018.1:c.1506C>T	XP_011514320.1:p.His502=
XM_005250257.2:c.633C>T	XP_005250314.1:p.His211=
XM_011516010.2:c.2007C>T	XP_011514312.1:p.His669=
XM_011516011.2:c.2004C>T	XP_011514313.1:p.His668=
XM_011516012.2:c.1941C>T	XP_011514314.1:p.His647=
XM_011516013.2:c.1935C>T	XP_011514315.1:p.His645=
XM_011516014.2:c.1905C>T	XP_011514316.1:p.His635=
XM_011516017.2:c.1533C>T	XP_011514319.1:p.His511=
XM_011516018.2:c.1506C>T	XP_011514320.1:p.His502=
XM_017011951.2:c.2007C>T	XP_016867440.1:p.His669=
NM_001127231.3:c.1914C>T	NP_001120703.1:p.His638=
NM_015570.4:c.1986C>T MANE Select	NP_056385.1:p.His662=