Canonical Allele Identifier: CA367669750

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242106T>A (hg19) ; chr7:g.70777120T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777120T>A , CM000669.2:g.70777120T>A	GRCh38
NC_000007.13:g.70242106T>A , CM000669.1:g.70242106T>A	GRCh37
NC_000007.12:g.69880042T>A	NCBI36
NG_034133.1:g.1183202T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.18T>A	ENSP00000514784.1:p.Cys6Ter
ENST00000342771.10:c.1950T>A MANE Select	ENSP00000344087.4:p.Cys650Ter
ENST00000439256.2:c.48T>A	ENSP00000407058.2:p.Cys16Ter
ENST00000443672.2:c.285T>A	ENSP00000393548.2:p.Cys95Ter
ENST00000449547.6:c.43T>A
ENST00000464768.2:n.618T>A
ENST00000644359.1:c.531T>A	ENSP00000494561.1:p.Cys177Ter
ENST00000644506.1:c.576T>A	ENSP00000496672.1:p.Cys192Ter
ENST00000644939.1:c.1947T>A	ENSP00000496726.1:p.Cys649Ter
ENST00000644949.1:c.281T>A
ENST00000646136.1:n.261T>A
ENST00000647140.1:c.815T>A
ENST00000342771.8:c.1950T>A	ENSP00000344087.4:p.Cys650Ter
ENST00000406775.6:c.1878T>A	ENSP00000385263.2:p.Cys626Ter
ENST00000439256.1:c.48T>A
ENST00000443672.1:c.530T>A
ENST00000464768.1:n.616T>A
ENST00000465899.1:n.447T>A
ENST00000498384.5:n.318T>A
ENST00000611706.4:c.1206T>A	ENSP00000478134.1:p.Cys402Ter
ENST00000615871.4:c.1134T>A	ENSP00000479325.1:p.Cys378Ter
NM_001127231.2:c.1878T>A	NP_001120703.1:p.Cys626Ter
NM_015570.3:c.1950T>A	NP_056385.1:p.Cys650Ter
XM_005250257.1:c.597T>A	XP_005250314.1:p.Cys199Ter
XM_011516010.1:c.1971T>A	XP_011514312.1:p.Cys657Ter
XM_011516011.1:c.1968T>A	XP_011514313.1:p.Cys656Ter
XM_011516012.1:c.1905T>A	XP_011514314.1:p.Cys635Ter
XM_011516013.1:c.1899T>A	XP_011514315.1:p.Cys633Ter
XM_011516014.1:c.1869T>A	XP_011514316.1:p.Cys623Ter
XM_011516015.1:c.1707T>A	XP_011514317.1:p.Cys569Ter
XM_011516016.1:c.1680T>A	XP_011514318.1:p.Cys560Ter
XM_011516017.1:c.1497T>A	XP_011514319.1:p.Cys499Ter
XM_011516018.1:c.1470T>A	XP_011514320.1:p.Cys490Ter
XM_005250257.2:c.597T>A	XP_005250314.1:p.Cys199Ter
XM_011516010.2:c.1971T>A	XP_011514312.1:p.Cys657Ter
XM_011516011.2:c.1968T>A	XP_011514313.1:p.Cys656Ter
XM_011516012.2:c.1905T>A	XP_011514314.1:p.Cys635Ter
XM_011516013.2:c.1899T>A	XP_011514315.1:p.Cys633Ter
XM_011516014.2:c.1869T>A	XP_011514316.1:p.Cys623Ter
XM_011516017.2:c.1497T>A	XP_011514319.1:p.Cys499Ter
XM_011516018.2:c.1470T>A	XP_011514320.1:p.Cys490Ter
XM_017011951.2:c.1971T>A	XP_016867440.1:p.Cys657Ter
NM_001127231.3:c.1878T>A	NP_001120703.1:p.Cys626Ter
NM_015570.4:c.1950T>A MANE Select	NP_056385.1:p.Cys650Ter