Canonical Allele Identifier: CA367669743

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242103G>C (hg19) ; chr7:g.70777117G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777117G>C , CM000669.2:g.70777117G>C	GRCh38
NC_000007.13:g.70242103G>C , CM000669.1:g.70242103G>C	GRCh37
NC_000007.12:g.69880039G>C	NCBI36
NG_034133.1:g.1183199G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.15G>C	ENSP00000514784.1:p.Trp5Cys
ENST00000342771.10:c.1947G>C MANE Select	ENSP00000344087.4:p.Trp649Cys
ENST00000439256.2:c.45G>C	ENSP00000407058.2:p.Trp15Cys
ENST00000443672.2:c.282G>C	ENSP00000393548.2:p.Trp94Cys
ENST00000449547.6:c.40G>C
ENST00000464768.2:n.615G>C
ENST00000644359.1:c.528G>C	ENSP00000494561.1:p.Trp176Cys
ENST00000644506.1:c.573G>C	ENSP00000496672.1:p.Trp191Cys
ENST00000644939.1:c.1944G>C	ENSP00000496726.1:p.Trp648Cys
ENST00000644949.1:c.278G>C
ENST00000646136.1:n.258G>C
ENST00000647140.1:c.812G>C
ENST00000342771.8:c.1947G>C	ENSP00000344087.4:p.Trp649Cys
ENST00000406775.6:c.1875G>C	ENSP00000385263.2:p.Trp625Cys
ENST00000439256.1:c.45G>C
ENST00000443672.1:c.527G>C
ENST00000464768.1:n.613G>C
ENST00000465899.1:n.444G>C
ENST00000498384.5:n.315G>C
ENST00000611706.4:c.1203G>C	ENSP00000478134.1:p.Trp401Cys
ENST00000615871.4:c.1131G>C	ENSP00000479325.1:p.Trp377Cys
NM_001127231.2:c.1875G>C	NP_001120703.1:p.Trp625Cys
NM_015570.3:c.1947G>C	NP_056385.1:p.Trp649Cys
XM_005250257.1:c.594G>C	XP_005250314.1:p.Trp198Cys
XM_011516010.1:c.1968G>C	XP_011514312.1:p.Trp656Cys
XM_011516011.1:c.1965G>C	XP_011514313.1:p.Trp655Cys
XM_011516012.1:c.1902G>C	XP_011514314.1:p.Trp634Cys
XM_011516013.1:c.1896G>C	XP_011514315.1:p.Trp632Cys
XM_011516014.1:c.1866G>C	XP_011514316.1:p.Trp622Cys
XM_011516015.1:c.1704G>C	XP_011514317.1:p.Trp568Cys
XM_011516016.1:c.1677G>C	XP_011514318.1:p.Trp559Cys
XM_011516017.1:c.1494G>C	XP_011514319.1:p.Trp498Cys
XM_011516018.1:c.1467G>C	XP_011514320.1:p.Trp489Cys
XM_005250257.2:c.594G>C	XP_005250314.1:p.Trp198Cys
XM_011516010.2:c.1968G>C	XP_011514312.1:p.Trp656Cys
XM_011516011.2:c.1965G>C	XP_011514313.1:p.Trp655Cys
XM_011516012.2:c.1902G>C	XP_011514314.1:p.Trp634Cys
XM_011516013.2:c.1896G>C	XP_011514315.1:p.Trp632Cys
XM_011516014.2:c.1866G>C	XP_011514316.1:p.Trp622Cys
XM_011516017.2:c.1494G>C	XP_011514319.1:p.Trp498Cys
XM_011516018.2:c.1467G>C	XP_011514320.1:p.Trp489Cys
XM_017011951.2:c.1968G>C	XP_016867440.1:p.Trp656Cys
NM_001127231.3:c.1875G>C	NP_001120703.1:p.Trp625Cys
NM_015570.4:c.1947G>C MANE Select	NP_056385.1:p.Trp649Cys