Canonical Allele Identifier: CA367669747

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70777119-G-A
• COSMIC: COSM6387919
• MyVariant Identifiers: chr7:g.70242105G>A (hg19) ; chr7:g.70777119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777119G>A , CM000669.2:g.70777119G>A	GRCh38
NC_000007.13:g.70242105G>A , CM000669.1:g.70242105G>A	GRCh37
NC_000007.12:g.69880041G>A	NCBI36
NG_034133.1:g.1183201G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.17G>A	ENSP00000514784.1:p.Cys6Tyr
ENST00000342771.10:c.1949G>A MANE Select	ENSP00000344087.4:p.Cys650Tyr
ENST00000439256.2:c.47G>A	ENSP00000407058.2:p.Cys16Tyr
ENST00000443672.2:c.284G>A	ENSP00000393548.2:p.Cys95Tyr
ENST00000449547.6:c.42G>A
ENST00000464768.2:n.617G>A
ENST00000644359.1:c.530G>A	ENSP00000494561.1:p.Cys177Tyr
ENST00000644506.1:c.575G>A	ENSP00000496672.1:p.Cys192Tyr
ENST00000644939.1:c.1946G>A	ENSP00000496726.1:p.Cys649Tyr
ENST00000644949.1:c.280G>A
ENST00000646136.1:n.260G>A
ENST00000647140.1:c.814G>A
ENST00000342771.8:c.1949G>A	ENSP00000344087.4:p.Cys650Tyr
ENST00000406775.6:c.1877G>A	ENSP00000385263.2:p.Cys626Tyr
ENST00000439256.1:c.47G>A
ENST00000443672.1:c.529G>A
ENST00000464768.1:n.615G>A
ENST00000465899.1:n.446G>A
ENST00000498384.5:n.317G>A
ENST00000611706.4:c.1205G>A	ENSP00000478134.1:p.Cys402Tyr
ENST00000615871.4:c.1133G>A	ENSP00000479325.1:p.Cys378Tyr
NM_001127231.2:c.1877G>A	NP_001120703.1:p.Cys626Tyr
NM_015570.3:c.1949G>A	NP_056385.1:p.Cys650Tyr
XM_005250257.1:c.596G>A	XP_005250314.1:p.Cys199Tyr
XM_011516010.1:c.1970G>A	XP_011514312.1:p.Cys657Tyr
XM_011516011.1:c.1967G>A	XP_011514313.1:p.Cys656Tyr
XM_011516012.1:c.1904G>A	XP_011514314.1:p.Cys635Tyr
XM_011516013.1:c.1898G>A	XP_011514315.1:p.Cys633Tyr
XM_011516014.1:c.1868G>A	XP_011514316.1:p.Cys623Tyr
XM_011516015.1:c.1706G>A	XP_011514317.1:p.Cys569Tyr
XM_011516016.1:c.1679G>A	XP_011514318.1:p.Cys560Tyr
XM_011516017.1:c.1496G>A	XP_011514319.1:p.Cys499Tyr
XM_011516018.1:c.1469G>A	XP_011514320.1:p.Cys490Tyr
XM_005250257.2:c.596G>A	XP_005250314.1:p.Cys199Tyr
XM_011516010.2:c.1970G>A	XP_011514312.1:p.Cys657Tyr
XM_011516011.2:c.1967G>A	XP_011514313.1:p.Cys656Tyr
XM_011516012.2:c.1904G>A	XP_011514314.1:p.Cys635Tyr
XM_011516013.2:c.1898G>A	XP_011514315.1:p.Cys633Tyr
XM_011516014.2:c.1868G>A	XP_011514316.1:p.Cys623Tyr
XM_011516017.2:c.1496G>A	XP_011514319.1:p.Cys499Tyr
XM_011516018.2:c.1469G>A	XP_011514320.1:p.Cys490Tyr
XM_017011951.2:c.1970G>A	XP_016867440.1:p.Cys657Tyr
NM_001127231.3:c.1877G>A	NP_001120703.1:p.Cys626Tyr
NM_015570.4:c.1949G>A MANE Select	NP_056385.1:p.Cys650Tyr