Canonical Allele Identifier: CA367668710

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70231132C>T (hg19) ; chr7:g.70766146C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766146C>T , CM000669.2:g.70766146C>T	GRCh38
NC_000007.13:g.70231132C>T , CM000669.1:g.70231132C>T	GRCh37
NC_000007.12:g.69869068C>T	NCBI36
NG_034133.1:g.1172228C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.1501C>T MANE Select	ENSP00000344087.4:p.Arg501Cys
ENST00000443672.2:c.-165C>T	ENSP00000393548.2:n.-165C>T
ENST00000644359.1:c.127C>T	ENSP00000494561.1:p.Arg43Cys
ENST00000644506.1:c.127C>T	ENSP00000496672.1:p.Arg43Cys
ENST00000644939.1:c.1498C>T	ENSP00000496726.1:p.Arg500Cys
ENST00000647140.1:c.345C>T
ENST00000656200.1:c.127C>T	ENSP00000499508.1:p.Arg43Cys
ENST00000342771.8:c.1501C>T	ENSP00000344087.4:p.Arg501Cys
ENST00000406775.6:c.1501C>T	ENSP00000385263.2:p.Arg501Cys
ENST00000443672.1:c.126C>T
ENST00000481994.1:n.108C>T
ENST00000611706.4:c.757C>T	ENSP00000478134.1:p.Arg253Cys
ENST00000615871.4:c.757C>T	ENSP00000479325.1:p.Arg253Cys
NM_001127231.2:c.1501C>T	NP_001120703.1:p.Arg501Cys
NM_015570.3:c.1501C>T	NP_056385.1:p.Arg501Cys
XM_005250257.1:c.127C>T	XP_005250314.1:p.Arg43Cys
XM_011516010.1:c.1501C>T	XP_011514312.1:p.Arg501Cys
XM_011516011.1:c.1498C>T	XP_011514313.1:p.Arg500Cys
XM_011516012.1:c.1501C>T	XP_011514314.1:p.Arg501Cys
XM_011516013.1:c.1501C>T	XP_011514315.1:p.Arg501Cys
XM_011516014.1:c.1501C>T	XP_011514316.1:p.Arg501Cys
XM_011516015.1:c.1501C>T	XP_011514317.1:p.Arg501Cys
XM_011516016.1:c.1210C>T	XP_011514318.1:p.Arg404Cys
XM_011516017.1:c.1027C>T	XP_011514319.1:p.Arg343Cys
XM_011516018.1:c.1000C>T	XP_011514320.1:p.Arg334Cys
XM_005250257.2:c.127C>T	XP_005250314.1:p.Arg43Cys
XM_011516010.2:c.1501C>T	XP_011514312.1:p.Arg501Cys
XM_011516011.2:c.1498C>T	XP_011514313.1:p.Arg500Cys
XM_011516012.2:c.1501C>T	XP_011514314.1:p.Arg501Cys
XM_011516013.2:c.1501C>T	XP_011514315.1:p.Arg501Cys
XM_011516014.2:c.1501C>T	XP_011514316.1:p.Arg501Cys
XM_011516017.2:c.1027C>T	XP_011514319.1:p.Arg343Cys
XM_011516018.2:c.1000C>T	XP_011514320.1:p.Arg334Cys
XM_017011951.2:c.1501C>T	XP_016867440.1:p.Arg501Cys
NM_001127231.3:c.1501C>T	NP_001120703.1:p.Arg501Cys
NM_015570.4:c.1501C>T MANE Select	NP_056385.1:p.Arg501Cys