Canonical Allele Identifier: CA367669804

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242129G>C (hg19) ; chr7:g.70777143G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777143G>C , CM000669.2:g.70777143G>C	GRCh38
NC_000007.13:g.70242129G>C , CM000669.1:g.70242129G>C	GRCh37
NC_000007.12:g.69880065G>C	NCBI36
NG_034133.1:g.1183225G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.41G>C	ENSP00000514784.1:p.Trp14Ser
ENST00000342771.10:c.1973G>C MANE Select	ENSP00000344087.4:p.Trp658Ser
ENST00000439256.2:c.71G>C	ENSP00000407058.2:p.Trp24Ser
ENST00000443672.2:c.308G>C	ENSP00000393548.2:p.Trp103Ser
ENST00000449547.6:c.66G>C
ENST00000464768.2:n.641G>C
ENST00000644359.1:c.554G>C	ENSP00000494561.1:p.Trp185Ser
ENST00000644506.1:c.599G>C	ENSP00000496672.1:p.Trp200Ser
ENST00000644939.1:c.1970G>C	ENSP00000496726.1:p.Trp657Ser
ENST00000646136.1:n.284G>C
ENST00000647140.1:c.838G>C
ENST00000342771.8:c.1973G>C	ENSP00000344087.4:p.Trp658Ser
ENST00000406775.6:c.1901G>C	ENSP00000385263.2:p.Trp634Ser
ENST00000439256.1:c.71G>C
ENST00000464768.1:n.639G>C
ENST00000465899.1:n.470G>C
ENST00000498384.5:n.341G>C
ENST00000611706.4:c.1229G>C	ENSP00000478134.1:p.Trp410Ser
ENST00000615871.4:c.1157G>C	ENSP00000479325.1:p.Trp386Ser
NM_001127231.2:c.1901G>C	NP_001120703.1:p.Trp634Ser
NM_015570.3:c.1973G>C	NP_056385.1:p.Trp658Ser
XM_005250257.1:c.620G>C	XP_005250314.1:p.Trp207Ser
XM_011516010.1:c.1994G>C	XP_011514312.1:p.Trp665Ser
XM_011516011.1:c.1991G>C	XP_011514313.1:p.Trp664Ser
XM_011516012.1:c.1928G>C	XP_011514314.1:p.Trp643Ser
XM_011516013.1:c.1922G>C	XP_011514315.1:p.Trp641Ser
XM_011516014.1:c.1892G>C	XP_011514316.1:p.Trp631Ser
XM_011516015.1:c.1730G>C	XP_011514317.1:p.Trp577Ser
XM_011516016.1:c.1703G>C	XP_011514318.1:p.Trp568Ser
XM_011516017.1:c.1520G>C	XP_011514319.1:p.Trp507Ser
XM_011516018.1:c.1493G>C	XP_011514320.1:p.Trp498Ser
XM_005250257.2:c.620G>C	XP_005250314.1:p.Trp207Ser
XM_011516010.2:c.1994G>C	XP_011514312.1:p.Trp665Ser
XM_011516011.2:c.1991G>C	XP_011514313.1:p.Trp664Ser
XM_011516012.2:c.1928G>C	XP_011514314.1:p.Trp643Ser
XM_011516013.2:c.1922G>C	XP_011514315.1:p.Trp641Ser
XM_011516014.2:c.1892G>C	XP_011514316.1:p.Trp631Ser
XM_011516017.2:c.1520G>C	XP_011514319.1:p.Trp507Ser
XM_011516018.2:c.1493G>C	XP_011514320.1:p.Trp498Ser
XM_017011951.2:c.1994G>C	XP_016867440.1:p.Trp665Ser
NM_001127231.3:c.1901G>C	NP_001120703.1:p.Trp634Ser
NM_015570.4:c.1973G>C MANE Select	NP_056385.1:p.Trp658Ser