Canonical Allele Identifier: CA367669812

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242132A>T (hg19) ; chr7:g.70777146A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777146A>T , CM000669.2:g.70777146A>T	GRCh38
NC_000007.13:g.70242132A>T , CM000669.1:g.70242132A>T	GRCh37
NC_000007.12:g.69880068A>T	NCBI36
NG_034133.1:g.1183228A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.44A>T	ENSP00000514784.1:p.Gln15Leu
ENST00000342771.10:c.1976A>T MANE Select	ENSP00000344087.4:p.Gln659Leu
ENST00000439256.2:c.74A>T	ENSP00000407058.2:p.Gln25Leu
ENST00000443672.2:c.311A>T	ENSP00000393548.2:p.Gln104Leu
ENST00000449547.6:c.69A>T
ENST00000464768.2:n.644A>T
ENST00000644359.1:c.557A>T	ENSP00000494561.1:p.Gln186Leu
ENST00000644506.1:c.602A>T	ENSP00000496672.1:p.Gln201Leu
ENST00000644939.1:c.1973A>T	ENSP00000496726.1:p.Gln658Leu
ENST00000646136.1:n.287A>T
ENST00000647140.1:c.841A>T
ENST00000342771.8:c.1976A>T	ENSP00000344087.4:p.Gln659Leu
ENST00000406775.6:c.1904A>T	ENSP00000385263.2:p.Gln635Leu
ENST00000439256.1:c.74A>T
ENST00000464768.1:n.642A>T
ENST00000465899.1:n.473A>T
ENST00000498384.5:n.344A>T
ENST00000611706.4:c.1232A>T	ENSP00000478134.1:p.Gln411Leu
ENST00000615871.4:c.1160A>T	ENSP00000479325.1:p.Gln387Leu
NM_001127231.2:c.1904A>T	NP_001120703.1:p.Gln635Leu
NM_015570.3:c.1976A>T	NP_056385.1:p.Gln659Leu
XM_005250257.1:c.623A>T	XP_005250314.1:p.Gln208Leu
XM_011516010.1:c.1997A>T	XP_011514312.1:p.Gln666Leu
XM_011516011.1:c.1994A>T	XP_011514313.1:p.Gln665Leu
XM_011516012.1:c.1931A>T	XP_011514314.1:p.Gln644Leu
XM_011516013.1:c.1925A>T	XP_011514315.1:p.Gln642Leu
XM_011516014.1:c.1895A>T	XP_011514316.1:p.Gln632Leu
XM_011516015.1:c.1733A>T	XP_011514317.1:p.Gln578Leu
XM_011516016.1:c.1706A>T	XP_011514318.1:p.Gln569Leu
XM_011516017.1:c.1523A>T	XP_011514319.1:p.Gln508Leu
XM_011516018.1:c.1496A>T	XP_011514320.1:p.Gln499Leu
XM_005250257.2:c.623A>T	XP_005250314.1:p.Gln208Leu
XM_011516010.2:c.1997A>T	XP_011514312.1:p.Gln666Leu
XM_011516011.2:c.1994A>T	XP_011514313.1:p.Gln665Leu
XM_011516012.2:c.1931A>T	XP_011514314.1:p.Gln644Leu
XM_011516013.2:c.1925A>T	XP_011514315.1:p.Gln642Leu
XM_011516014.2:c.1895A>T	XP_011514316.1:p.Gln632Leu
XM_011516017.2:c.1523A>T	XP_011514319.1:p.Gln508Leu
XM_011516018.2:c.1496A>T	XP_011514320.1:p.Gln499Leu
XM_017011951.2:c.1997A>T	XP_016867440.1:p.Gln666Leu
NM_001127231.3:c.1904A>T	NP_001120703.1:p.Gln635Leu
NM_015570.4:c.1976A>T MANE Select	NP_056385.1:p.Gln659Leu