Canonical Allele Identifier: CA367669795

Gene: AUTS2

Linked Data

• dbSNP Id: rs750187638
• gnomAD v3: 7-70777139-G-T
• gnomAD v4: 7-70777139-G-T
• MyVariant Identifiers: chr7:g.70242125G>T (hg19) ; chr7:g.70777139G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777139G>T , CM000669.2:g.70777139G>T	GRCh38
NC_000007.13:g.70242125G>T , CM000669.1:g.70242125G>T	GRCh37
NC_000007.12:g.69880061G>T	NCBI36
NG_034133.1:g.1183221G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.37G>T	ENSP00000514784.1:p.Ala13Ser
ENST00000342771.10:c.1969G>T MANE Select	ENSP00000344087.4:p.Ala657Ser
ENST00000439256.2:c.67G>T	ENSP00000407058.2:p.Ala23Ser
ENST00000443672.2:c.304G>T	ENSP00000393548.2:p.Ala102Ser
ENST00000449547.6:c.62G>T
ENST00000464768.2:n.637G>T
ENST00000644359.1:c.550G>T	ENSP00000494561.1:p.Ala184Ser
ENST00000644506.1:c.595G>T	ENSP00000496672.1:p.Ala199Ser
ENST00000644939.1:c.1966G>T	ENSP00000496726.1:p.Ala656Ser
ENST00000646136.1:n.280G>T
ENST00000647140.1:c.834G>T
ENST00000342771.8:c.1969G>T	ENSP00000344087.4:p.Ala657Ser
ENST00000406775.6:c.1897G>T	ENSP00000385263.2:p.Ala633Ser
ENST00000439256.1:c.67G>T
ENST00000464768.1:n.635G>T
ENST00000465899.1:n.466G>T
ENST00000498384.5:n.337G>T
ENST00000611706.4:c.1225G>T	ENSP00000478134.1:p.Ala409Ser
ENST00000615871.4:c.1153G>T	ENSP00000479325.1:p.Ala385Ser
NM_001127231.2:c.1897G>T	NP_001120703.1:p.Ala633Ser
NM_015570.3:c.1969G>T	NP_056385.1:p.Ala657Ser
XM_005250257.1:c.616G>T	XP_005250314.1:p.Ala206Ser
XM_011516010.1:c.1990G>T	XP_011514312.1:p.Ala664Ser
XM_011516011.1:c.1987G>T	XP_011514313.1:p.Ala663Ser
XM_011516012.1:c.1924G>T	XP_011514314.1:p.Ala642Ser
XM_011516013.1:c.1918G>T	XP_011514315.1:p.Ala640Ser
XM_011516014.1:c.1888G>T	XP_011514316.1:p.Ala630Ser
XM_011516015.1:c.1726G>T	XP_011514317.1:p.Ala576Ser
XM_011516016.1:c.1699G>T	XP_011514318.1:p.Ala567Ser
XM_011516017.1:c.1516G>T	XP_011514319.1:p.Ala506Ser
XM_011516018.1:c.1489G>T	XP_011514320.1:p.Ala497Ser
XM_005250257.2:c.616G>T	XP_005250314.1:p.Ala206Ser
XM_011516010.2:c.1990G>T	XP_011514312.1:p.Ala664Ser
XM_011516011.2:c.1987G>T	XP_011514313.1:p.Ala663Ser
XM_011516012.2:c.1924G>T	XP_011514314.1:p.Ala642Ser
XM_011516013.2:c.1918G>T	XP_011514315.1:p.Ala640Ser
XM_011516014.2:c.1888G>T	XP_011514316.1:p.Ala630Ser
XM_011516017.2:c.1516G>T	XP_011514319.1:p.Ala506Ser
XM_011516018.2:c.1489G>T	XP_011514320.1:p.Ala497Ser
XM_017011951.2:c.1990G>T	XP_016867440.1:p.Ala664Ser
NM_001127231.3:c.1897G>T	NP_001120703.1:p.Ala633Ser
NM_015570.4:c.1969G>T MANE Select	NP_056385.1:p.Ala657Ser