Canonical Allele Identifier: CA367669838

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242143C>A (hg19) ; chr7:g.70777157C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777157C>A , CM000669.2:g.70777157C>A	GRCh38
NC_000007.13:g.70242143C>A , CM000669.1:g.70242143C>A	GRCh37
NC_000007.12:g.69880079C>A	NCBI36
NG_034133.1:g.1183239C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.55C>A	ENSP00000514784.1:p.His19Asn
ENST00000342771.10:c.1987C>A MANE Select	ENSP00000344087.4:p.His663Asn
ENST00000439256.2:c.85C>A	ENSP00000407058.2:p.His29Asn
ENST00000443672.2:c.322C>A	ENSP00000393548.2:p.His108Asn
ENST00000449547.6:c.80C>A
ENST00000464768.2:n.655C>A
ENST00000644359.1:c.568C>A	ENSP00000494561.1:p.His190Asn
ENST00000644506.1:c.613C>A	ENSP00000496672.1:p.His205Asn
ENST00000644939.1:c.1984C>A	ENSP00000496726.1:p.His662Asn
ENST00000646136.1:n.298C>A
ENST00000647140.1:c.852C>A
ENST00000342771.8:c.1987C>A	ENSP00000344087.4:p.His663Asn
ENST00000406775.6:c.1915C>A	ENSP00000385263.2:p.His639Asn
ENST00000439256.1:c.85C>A
ENST00000464768.1:n.653C>A
ENST00000465899.1:n.484C>A
ENST00000498384.5:n.355C>A
ENST00000611706.4:c.1243C>A	ENSP00000478134.1:p.His415Asn
ENST00000615871.4:c.1171C>A	ENSP00000479325.1:p.His391Asn
NM_001127231.2:c.1915C>A	NP_001120703.1:p.His639Asn
NM_015570.3:c.1987C>A	NP_056385.1:p.His663Asn
XM_005250257.1:c.634C>A	XP_005250314.1:p.His212Asn
XM_011516010.1:c.2008C>A	XP_011514312.1:p.His670Asn
XM_011516011.1:c.2005C>A	XP_011514313.1:p.His669Asn
XM_011516012.1:c.1942C>A	XP_011514314.1:p.His648Asn
XM_011516013.1:c.1936C>A	XP_011514315.1:p.His646Asn
XM_011516014.1:c.1906C>A	XP_011514316.1:p.His636Asn
XM_011516015.1:c.1744C>A	XP_011514317.1:p.His582Asn
XM_011516016.1:c.1717C>A	XP_011514318.1:p.His573Asn
XM_011516017.1:c.1534C>A	XP_011514319.1:p.His512Asn
XM_011516018.1:c.1507C>A	XP_011514320.1:p.His503Asn
XM_005250257.2:c.634C>A	XP_005250314.1:p.His212Asn
XM_011516010.2:c.2008C>A	XP_011514312.1:p.His670Asn
XM_011516011.2:c.2005C>A	XP_011514313.1:p.His669Asn
XM_011516012.2:c.1942C>A	XP_011514314.1:p.His648Asn
XM_011516013.2:c.1936C>A	XP_011514315.1:p.His646Asn
XM_011516014.2:c.1906C>A	XP_011514316.1:p.His636Asn
XM_011516017.2:c.1534C>A	XP_011514319.1:p.His512Asn
XM_011516018.2:c.1507C>A	XP_011514320.1:p.His503Asn
XM_017011951.2:c.2008C>A	XP_016867440.1:p.His670Asn
NM_001127231.3:c.1915C>A	NP_001120703.1:p.His639Asn
NM_015570.4:c.1987C>A MANE Select	NP_056385.1:p.His663Asn