Canonical Allele Identifier: CA367669745

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242104T>C (hg19) ; chr7:g.70777118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777118T>C , CM000669.2:g.70777118T>C	GRCh38
NC_000007.13:g.70242104T>C , CM000669.1:g.70242104T>C	GRCh37
NC_000007.12:g.69880040T>C	NCBI36
NG_034133.1:g.1183200T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.16T>C	ENSP00000514784.1:p.Cys6Arg
ENST00000342771.10:c.1948T>C MANE Select	ENSP00000344087.4:p.Cys650Arg
ENST00000439256.2:c.46T>C	ENSP00000407058.2:p.Cys16Arg
ENST00000443672.2:c.283T>C	ENSP00000393548.2:p.Cys95Arg
ENST00000449547.6:c.41T>C
ENST00000464768.2:n.616T>C
ENST00000644359.1:c.529T>C	ENSP00000494561.1:p.Cys177Arg
ENST00000644506.1:c.574T>C	ENSP00000496672.1:p.Cys192Arg
ENST00000644939.1:c.1945T>C	ENSP00000496726.1:p.Cys649Arg
ENST00000644949.1:c.279T>C
ENST00000646136.1:n.259T>C
ENST00000647140.1:c.813T>C
ENST00000342771.8:c.1948T>C	ENSP00000344087.4:p.Cys650Arg
ENST00000406775.6:c.1876T>C	ENSP00000385263.2:p.Cys626Arg
ENST00000439256.1:c.46T>C
ENST00000443672.1:c.528T>C
ENST00000464768.1:n.614T>C
ENST00000465899.1:n.445T>C
ENST00000498384.5:n.316T>C
ENST00000611706.4:c.1204T>C	ENSP00000478134.1:p.Cys402Arg
ENST00000615871.4:c.1132T>C	ENSP00000479325.1:p.Cys378Arg
NM_001127231.2:c.1876T>C	NP_001120703.1:p.Cys626Arg
NM_015570.3:c.1948T>C	NP_056385.1:p.Cys650Arg
XM_005250257.1:c.595T>C	XP_005250314.1:p.Cys199Arg
XM_011516010.1:c.1969T>C	XP_011514312.1:p.Cys657Arg
XM_011516011.1:c.1966T>C	XP_011514313.1:p.Cys656Arg
XM_011516012.1:c.1903T>C	XP_011514314.1:p.Cys635Arg
XM_011516013.1:c.1897T>C	XP_011514315.1:p.Cys633Arg
XM_011516014.1:c.1867T>C	XP_011514316.1:p.Cys623Arg
XM_011516015.1:c.1705T>C	XP_011514317.1:p.Cys569Arg
XM_011516016.1:c.1678T>C	XP_011514318.1:p.Cys560Arg
XM_011516017.1:c.1495T>C	XP_011514319.1:p.Cys499Arg
XM_011516018.1:c.1468T>C	XP_011514320.1:p.Cys490Arg
XM_005250257.2:c.595T>C	XP_005250314.1:p.Cys199Arg
XM_011516010.2:c.1969T>C	XP_011514312.1:p.Cys657Arg
XM_011516011.2:c.1966T>C	XP_011514313.1:p.Cys656Arg
XM_011516012.2:c.1903T>C	XP_011514314.1:p.Cys635Arg
XM_011516013.2:c.1897T>C	XP_011514315.1:p.Cys633Arg
XM_011516014.2:c.1867T>C	XP_011514316.1:p.Cys623Arg
XM_011516017.2:c.1495T>C	XP_011514319.1:p.Cys499Arg
XM_011516018.2:c.1468T>C	XP_011514320.1:p.Cys490Arg
XM_017011951.2:c.1969T>C	XP_016867440.1:p.Cys657Arg
NM_001127231.3:c.1876T>C	NP_001120703.1:p.Cys626Arg
NM_015570.4:c.1948T>C MANE Select	NP_056385.1:p.Cys650Arg