Canonical Allele Identifier: CA367669857

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242150A>C (hg19) ; chr7:g.70777164A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777164A>C , CM000669.2:g.70777164A>C	GRCh38
NC_000007.13:g.70242150A>C , CM000669.1:g.70242150A>C	GRCh37
NC_000007.12:g.69880086A>C	NCBI36
NG_034133.1:g.1183246A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.62A>C	ENSP00000514784.1:p.Gln21Pro
ENST00000342771.10:c.1994A>C MANE Select	ENSP00000344087.4:p.Gln665Pro
ENST00000439256.2:c.92A>C	ENSP00000407058.2:p.Gln31Pro
ENST00000443672.2:c.329A>C	ENSP00000393548.2:p.Gln110Pro
ENST00000449547.6:c.87A>C
ENST00000464768.2:n.662A>C
ENST00000644359.1:c.575A>C	ENSP00000494561.1:p.Gln192Pro
ENST00000644506.1:c.620A>C	ENSP00000496672.1:p.Gln207Pro
ENST00000644939.1:c.1991A>C	ENSP00000496726.1:p.Gln664Pro
ENST00000646136.1:n.305A>C
ENST00000647140.1:c.859A>C
ENST00000342771.8:c.1994A>C	ENSP00000344087.4:p.Gln665Pro
ENST00000406775.6:c.1922A>C	ENSP00000385263.2:p.Gln641Pro
ENST00000439256.1:c.92A>C
ENST00000464768.1:n.660A>C
ENST00000465899.1:n.491A>C
ENST00000498384.5:n.362A>C
ENST00000611706.4:c.1250A>C	ENSP00000478134.1:p.Gln417Pro
ENST00000615871.4:c.1178A>C	ENSP00000479325.1:p.Gln393Pro
NM_001127231.2:c.1922A>C	NP_001120703.1:p.Gln641Pro
NM_015570.3:c.1994A>C	NP_056385.1:p.Gln665Pro
XM_005250257.1:c.641A>C	XP_005250314.1:p.Gln214Pro
XM_011516010.1:c.2015A>C	XP_011514312.1:p.Gln672Pro
XM_011516011.1:c.2012A>C	XP_011514313.1:p.Gln671Pro
XM_011516012.1:c.1949A>C	XP_011514314.1:p.Gln650Pro
XM_011516013.1:c.1943A>C	XP_011514315.1:p.Gln648Pro
XM_011516014.1:c.1913A>C	XP_011514316.1:p.Gln638Pro
XM_011516015.1:c.1751A>C	XP_011514317.1:p.Gln584Pro
XM_011516016.1:c.1724A>C	XP_011514318.1:p.Gln575Pro
XM_011516017.1:c.1541A>C	XP_011514319.1:p.Gln514Pro
XM_011516018.1:c.1514A>C	XP_011514320.1:p.Gln505Pro
XM_005250257.2:c.641A>C	XP_005250314.1:p.Gln214Pro
XM_011516010.2:c.2015A>C	XP_011514312.1:p.Gln672Pro
XM_011516011.2:c.2012A>C	XP_011514313.1:p.Gln671Pro
XM_011516012.2:c.1949A>C	XP_011514314.1:p.Gln650Pro
XM_011516013.2:c.1943A>C	XP_011514315.1:p.Gln648Pro
XM_011516014.2:c.1913A>C	XP_011514316.1:p.Gln638Pro
XM_011516017.2:c.1541A>C	XP_011514319.1:p.Gln514Pro
XM_011516018.2:c.1514A>C	XP_011514320.1:p.Gln505Pro
XM_017011951.2:c.2015A>C	XP_016867440.1:p.Gln672Pro
NM_001127231.3:c.1922A>C	NP_001120703.1:p.Gln641Pro
NM_015570.4:c.1994A>C MANE Select	NP_056385.1:p.Gln665Pro