Canonical Allele Identifier: CA367669818

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242135T>A (hg19) ; chr7:g.70777149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777149T>A , CM000669.2:g.70777149T>A	GRCh38
NC_000007.13:g.70242135T>A , CM000669.1:g.70242135T>A	GRCh37
NC_000007.12:g.69880071T>A	NCBI36
NG_034133.1:g.1183231T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.47T>A	ENSP00000514784.1:p.Ile16Asn
ENST00000342771.10:c.1979T>A MANE Select	ENSP00000344087.4:p.Ile660Asn
ENST00000439256.2:c.77T>A	ENSP00000407058.2:p.Ile26Asn
ENST00000443672.2:c.314T>A	ENSP00000393548.2:p.Ile105Asn
ENST00000449547.6:c.72T>A
ENST00000464768.2:n.647T>A
ENST00000644359.1:c.560T>A	ENSP00000494561.1:p.Ile187Asn
ENST00000644506.1:c.605T>A	ENSP00000496672.1:p.Ile202Asn
ENST00000644939.1:c.1976T>A	ENSP00000496726.1:p.Ile659Asn
ENST00000646136.1:n.290T>A
ENST00000647140.1:c.844T>A
ENST00000342771.8:c.1979T>A	ENSP00000344087.4:p.Ile660Asn
ENST00000406775.6:c.1907T>A	ENSP00000385263.2:p.Ile636Asn
ENST00000439256.1:c.77T>A
ENST00000464768.1:n.645T>A
ENST00000465899.1:n.476T>A
ENST00000498384.5:n.347T>A
ENST00000611706.4:c.1235T>A	ENSP00000478134.1:p.Ile412Asn
ENST00000615871.4:c.1163T>A	ENSP00000479325.1:p.Ile388Asn
NM_001127231.2:c.1907T>A	NP_001120703.1:p.Ile636Asn
NM_015570.3:c.1979T>A	NP_056385.1:p.Ile660Asn
XM_005250257.1:c.626T>A	XP_005250314.1:p.Ile209Asn
XM_011516010.1:c.2000T>A	XP_011514312.1:p.Ile667Asn
XM_011516011.1:c.1997T>A	XP_011514313.1:p.Ile666Asn
XM_011516012.1:c.1934T>A	XP_011514314.1:p.Ile645Asn
XM_011516013.1:c.1928T>A	XP_011514315.1:p.Ile643Asn
XM_011516014.1:c.1898T>A	XP_011514316.1:p.Ile633Asn
XM_011516015.1:c.1736T>A	XP_011514317.1:p.Ile579Asn
XM_011516016.1:c.1709T>A	XP_011514318.1:p.Ile570Asn
XM_011516017.1:c.1526T>A	XP_011514319.1:p.Ile509Asn
XM_011516018.1:c.1499T>A	XP_011514320.1:p.Ile500Asn
XM_005250257.2:c.626T>A	XP_005250314.1:p.Ile209Asn
XM_011516010.2:c.2000T>A	XP_011514312.1:p.Ile667Asn
XM_011516011.2:c.1997T>A	XP_011514313.1:p.Ile666Asn
XM_011516012.2:c.1934T>A	XP_011514314.1:p.Ile645Asn
XM_011516013.2:c.1928T>A	XP_011514315.1:p.Ile643Asn
XM_011516014.2:c.1898T>A	XP_011514316.1:p.Ile633Asn
XM_011516017.2:c.1526T>A	XP_011514319.1:p.Ile509Asn
XM_011516018.2:c.1499T>A	XP_011514320.1:p.Ile500Asn
XM_017011951.2:c.2000T>A	XP_016867440.1:p.Ile667Asn
NM_001127231.3:c.1907T>A	NP_001120703.1:p.Ile636Asn
NM_015570.4:c.1979T>A MANE Select	NP_056385.1:p.Ile660Asn