Canonical Allele Identifier: CA367669820

Gene: AUTS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.47T>G	ENSP00000514784.1:p.Ile16Ser
ENST00000342771.10:c.1979T>G MANE Select	ENSP00000344087.4:p.Ile660Ser
ENST00000439256.2:c.77T>G	ENSP00000407058.2:p.Ile26Ser
ENST00000443672.2:c.314T>G	ENSP00000393548.2:p.Ile105Ser
ENST00000449547.6:c.72T>G
ENST00000464768.2:n.647T>G
ENST00000644359.1:c.560T>G	ENSP00000494561.1:p.Ile187Ser
ENST00000644506.1:c.605T>G	ENSP00000496672.1:p.Ile202Ser
ENST00000644939.1:c.1976T>G	ENSP00000496726.1:p.Ile659Ser
ENST00000646136.1:n.290T>G
ENST00000647140.1:c.844T>G
ENST00000342771.8:c.1979T>G	ENSP00000344087.4:p.Ile660Ser
ENST00000406775.6:c.1907T>G	ENSP00000385263.2:p.Ile636Ser
ENST00000439256.1:c.77T>G
ENST00000464768.1:n.645T>G
ENST00000465899.1:n.476T>G
ENST00000498384.5:n.347T>G
ENST00000611706.4:c.1235T>G	ENSP00000478134.1:p.Ile412Ser
ENST00000615871.4:c.1163T>G	ENSP00000479325.1:p.Ile388Ser
NM_001127231.2:c.1907T>G	NP_001120703.1:p.Ile636Ser
NM_015570.3:c.1979T>G	NP_056385.1:p.Ile660Ser
XM_005250257.1:c.626T>G	XP_005250314.1:p.Ile209Ser
XM_011516010.1:c.2000T>G	XP_011514312.1:p.Ile667Ser
XM_011516011.1:c.1997T>G	XP_011514313.1:p.Ile666Ser
XM_011516012.1:c.1934T>G	XP_011514314.1:p.Ile645Ser
XM_011516013.1:c.1928T>G	XP_011514315.1:p.Ile643Ser
XM_011516014.1:c.1898T>G	XP_011514316.1:p.Ile633Ser
XM_011516015.1:c.1736T>G	XP_011514317.1:p.Ile579Ser
XM_011516016.1:c.1709T>G	XP_011514318.1:p.Ile570Ser
XM_011516017.1:c.1526T>G	XP_011514319.1:p.Ile509Ser
XM_011516018.1:c.1499T>G	XP_011514320.1:p.Ile500Ser
XM_005250257.2:c.626T>G	XP_005250314.1:p.Ile209Ser
XM_011516010.2:c.2000T>G	XP_011514312.1:p.Ile667Ser
XM_011516011.2:c.1997T>G	XP_011514313.1:p.Ile666Ser
XM_011516012.2:c.1934T>G	XP_011514314.1:p.Ile645Ser
XM_011516013.2:c.1928T>G	XP_011514315.1:p.Ile643Ser
XM_011516014.2:c.1898T>G	XP_011514316.1:p.Ile633Ser
XM_011516017.2:c.1526T>G	XP_011514319.1:p.Ile509Ser
XM_011516018.2:c.1499T>G	XP_011514320.1:p.Ile500Ser
XM_017011951.2:c.2000T>G	XP_016867440.1:p.Ile667Ser
NM_001127231.3:c.1907T>G	NP_001120703.1:p.Ile636Ser
NM_015570.4:c.1979T>G MANE Select	NP_056385.1:p.Ile660Ser