Canonical Allele Identifier: CA367669802

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242128T>G (hg19) ; chr7:g.70777142T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777142T>G , CM000669.2:g.70777142T>G	GRCh38
NC_000007.13:g.70242128T>G , CM000669.1:g.70242128T>G	GRCh37
NC_000007.12:g.69880064T>G	NCBI36
NG_034133.1:g.1183224T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.40T>G	ENSP00000514784.1:p.Trp14Gly
ENST00000342771.10:c.1972T>G MANE Select	ENSP00000344087.4:p.Trp658Gly
ENST00000439256.2:c.70T>G	ENSP00000407058.2:p.Trp24Gly
ENST00000443672.2:c.307T>G	ENSP00000393548.2:p.Trp103Gly
ENST00000449547.6:c.65T>G
ENST00000464768.2:n.640T>G
ENST00000644359.1:c.553T>G	ENSP00000494561.1:p.Trp185Gly
ENST00000644506.1:c.598T>G	ENSP00000496672.1:p.Trp200Gly
ENST00000644939.1:c.1969T>G	ENSP00000496726.1:p.Trp657Gly
ENST00000646136.1:n.283T>G
ENST00000647140.1:c.837T>G
ENST00000342771.8:c.1972T>G	ENSP00000344087.4:p.Trp658Gly
ENST00000406775.6:c.1900T>G	ENSP00000385263.2:p.Trp634Gly
ENST00000439256.1:c.70T>G
ENST00000464768.1:n.638T>G
ENST00000465899.1:n.469T>G
ENST00000498384.5:n.340T>G
ENST00000611706.4:c.1228T>G	ENSP00000478134.1:p.Trp410Gly
ENST00000615871.4:c.1156T>G	ENSP00000479325.1:p.Trp386Gly
NM_001127231.2:c.1900T>G	NP_001120703.1:p.Trp634Gly
NM_015570.3:c.1972T>G	NP_056385.1:p.Trp658Gly
XM_005250257.1:c.619T>G	XP_005250314.1:p.Trp207Gly
XM_011516010.1:c.1993T>G	XP_011514312.1:p.Trp665Gly
XM_011516011.1:c.1990T>G	XP_011514313.1:p.Trp664Gly
XM_011516012.1:c.1927T>G	XP_011514314.1:p.Trp643Gly
XM_011516013.1:c.1921T>G	XP_011514315.1:p.Trp641Gly
XM_011516014.1:c.1891T>G	XP_011514316.1:p.Trp631Gly
XM_011516015.1:c.1729T>G	XP_011514317.1:p.Trp577Gly
XM_011516016.1:c.1702T>G	XP_011514318.1:p.Trp568Gly
XM_011516017.1:c.1519T>G	XP_011514319.1:p.Trp507Gly
XM_011516018.1:c.1492T>G	XP_011514320.1:p.Trp498Gly
XM_005250257.2:c.619T>G	XP_005250314.1:p.Trp207Gly
XM_011516010.2:c.1993T>G	XP_011514312.1:p.Trp665Gly
XM_011516011.2:c.1990T>G	XP_011514313.1:p.Trp664Gly
XM_011516012.2:c.1927T>G	XP_011514314.1:p.Trp643Gly
XM_011516013.2:c.1921T>G	XP_011514315.1:p.Trp641Gly
XM_011516014.2:c.1891T>G	XP_011514316.1:p.Trp631Gly
XM_011516017.2:c.1519T>G	XP_011514319.1:p.Trp507Gly
XM_011516018.2:c.1492T>G	XP_011514320.1:p.Trp498Gly
XM_017011951.2:c.1993T>G	XP_016867440.1:p.Trp665Gly
NM_001127231.3:c.1900T>G	NP_001120703.1:p.Trp634Gly
NM_015570.4:c.1972T>G MANE Select	NP_056385.1:p.Trp658Gly