Canonical Allele Identifier: CA367669798

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242126C>G (hg19) ; chr7:g.70777140C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777140C>G , CM000669.2:g.70777140C>G	GRCh38
NC_000007.13:g.70242126C>G , CM000669.1:g.70242126C>G	GRCh37
NC_000007.12:g.69880062C>G	NCBI36
NG_034133.1:g.1183222C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.38C>G	ENSP00000514784.1:p.Ala13Gly
ENST00000342771.10:c.1970C>G MANE Select	ENSP00000344087.4:p.Ala657Gly
ENST00000439256.2:c.68C>G	ENSP00000407058.2:p.Ala23Gly
ENST00000443672.2:c.305C>G	ENSP00000393548.2:p.Ala102Gly
ENST00000449547.6:c.63C>G
ENST00000464768.2:n.638C>G
ENST00000644359.1:c.551C>G	ENSP00000494561.1:p.Ala184Gly
ENST00000644506.1:c.596C>G	ENSP00000496672.1:p.Ala199Gly
ENST00000644939.1:c.1967C>G	ENSP00000496726.1:p.Ala656Gly
ENST00000646136.1:n.281C>G
ENST00000647140.1:c.835C>G
ENST00000342771.8:c.1970C>G	ENSP00000344087.4:p.Ala657Gly
ENST00000406775.6:c.1898C>G	ENSP00000385263.2:p.Ala633Gly
ENST00000439256.1:c.68C>G
ENST00000464768.1:n.636C>G
ENST00000465899.1:n.467C>G
ENST00000498384.5:n.338C>G
ENST00000611706.4:c.1226C>G	ENSP00000478134.1:p.Ala409Gly
ENST00000615871.4:c.1154C>G	ENSP00000479325.1:p.Ala385Gly
NM_001127231.2:c.1898C>G	NP_001120703.1:p.Ala633Gly
NM_015570.3:c.1970C>G	NP_056385.1:p.Ala657Gly
XM_005250257.1:c.617C>G	XP_005250314.1:p.Ala206Gly
XM_011516010.1:c.1991C>G	XP_011514312.1:p.Ala664Gly
XM_011516011.1:c.1988C>G	XP_011514313.1:p.Ala663Gly
XM_011516012.1:c.1925C>G	XP_011514314.1:p.Ala642Gly
XM_011516013.1:c.1919C>G	XP_011514315.1:p.Ala640Gly
XM_011516014.1:c.1889C>G	XP_011514316.1:p.Ala630Gly
XM_011516015.1:c.1727C>G	XP_011514317.1:p.Ala576Gly
XM_011516016.1:c.1700C>G	XP_011514318.1:p.Ala567Gly
XM_011516017.1:c.1517C>G	XP_011514319.1:p.Ala506Gly
XM_011516018.1:c.1490C>G	XP_011514320.1:p.Ala497Gly
XM_005250257.2:c.617C>G	XP_005250314.1:p.Ala206Gly
XM_011516010.2:c.1991C>G	XP_011514312.1:p.Ala664Gly
XM_011516011.2:c.1988C>G	XP_011514313.1:p.Ala663Gly
XM_011516012.2:c.1925C>G	XP_011514314.1:p.Ala642Gly
XM_011516013.2:c.1919C>G	XP_011514315.1:p.Ala640Gly
XM_011516014.2:c.1889C>G	XP_011514316.1:p.Ala630Gly
XM_011516017.2:c.1517C>G	XP_011514319.1:p.Ala506Gly
XM_011516018.2:c.1490C>G	XP_011514320.1:p.Ala497Gly
XM_017011951.2:c.1991C>G	XP_016867440.1:p.Ala664Gly
NM_001127231.3:c.1898C>G	NP_001120703.1:p.Ala633Gly
NM_015570.4:c.1970C>G MANE Select	NP_056385.1:p.Ala657Gly