Canonical Allele Identifier: CA367669787

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242121C>G (hg19) ; chr7:g.70777135C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777135C>G , CM000669.2:g.70777135C>G	GRCh38
NC_000007.13:g.70242121C>G , CM000669.1:g.70242121C>G	GRCh37
NC_000007.12:g.69880057C>G	NCBI36
NG_034133.1:g.1183217C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.33C>G	ENSP00000514784.1:p.His11Gln
ENST00000342771.10:c.1965C>G MANE Select	ENSP00000344087.4:p.His655Gln
ENST00000439256.2:c.63C>G	ENSP00000407058.2:p.His21Gln
ENST00000443672.2:c.300C>G	ENSP00000393548.2:p.His100Gln
ENST00000449547.6:c.58C>G
ENST00000464768.2:n.633C>G
ENST00000644359.1:c.546C>G	ENSP00000494561.1:p.His182Gln
ENST00000644506.1:c.591C>G	ENSP00000496672.1:p.His197Gln
ENST00000644939.1:c.1962C>G	ENSP00000496726.1:p.His654Gln
ENST00000644949.1:c.296C>G
ENST00000646136.1:n.276C>G
ENST00000647140.1:c.830C>G
ENST00000342771.8:c.1965C>G	ENSP00000344087.4:p.His655Gln
ENST00000406775.6:c.1893C>G	ENSP00000385263.2:p.His631Gln
ENST00000439256.1:c.63C>G
ENST00000464768.1:n.631C>G
ENST00000465899.1:n.462C>G
ENST00000498384.5:n.333C>G
ENST00000611706.4:c.1221C>G	ENSP00000478134.1:p.His407Gln
ENST00000615871.4:c.1149C>G	ENSP00000479325.1:p.His383Gln
NM_001127231.2:c.1893C>G	NP_001120703.1:p.His631Gln
NM_015570.3:c.1965C>G	NP_056385.1:p.His655Gln
XM_005250257.1:c.612C>G	XP_005250314.1:p.His204Gln
XM_011516010.1:c.1986C>G	XP_011514312.1:p.His662Gln
XM_011516011.1:c.1983C>G	XP_011514313.1:p.His661Gln
XM_011516012.1:c.1920C>G	XP_011514314.1:p.His640Gln
XM_011516013.1:c.1914C>G	XP_011514315.1:p.His638Gln
XM_011516014.1:c.1884C>G	XP_011514316.1:p.His628Gln
XM_011516015.1:c.1722C>G	XP_011514317.1:p.His574Gln
XM_011516016.1:c.1695C>G	XP_011514318.1:p.His565Gln
XM_011516017.1:c.1512C>G	XP_011514319.1:p.His504Gln
XM_011516018.1:c.1485C>G	XP_011514320.1:p.His495Gln
XM_005250257.2:c.612C>G	XP_005250314.1:p.His204Gln
XM_011516010.2:c.1986C>G	XP_011514312.1:p.His662Gln
XM_011516011.2:c.1983C>G	XP_011514313.1:p.His661Gln
XM_011516012.2:c.1920C>G	XP_011514314.1:p.His640Gln
XM_011516013.2:c.1914C>G	XP_011514315.1:p.His638Gln
XM_011516014.2:c.1884C>G	XP_011514316.1:p.His628Gln
XM_011516017.2:c.1512C>G	XP_011514319.1:p.His504Gln
XM_011516018.2:c.1485C>G	XP_011514320.1:p.His495Gln
XM_017011951.2:c.1986C>G	XP_016867440.1:p.His662Gln
NM_001127231.3:c.1893C>G	NP_001120703.1:p.His631Gln
NM_015570.4:c.1965C>G MANE Select	NP_056385.1:p.His655Gln