Canonical Allele Identifier: CA455803136

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242136T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777150T>A , CM000669.2:g.70777150T>A	GRCh38
NC_000007.13:g.70242136T>A , CM000669.1:g.70242136T>A	GRCh37
NC_000007.12:g.69880072T>A	NCBI36
NG_034133.1:g.1183232T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.48T>A	ENSP00000514784.1:p.Ile16=
ENST00000342771.10:c.1980T>A MANE Select	ENSP00000344087.4:p.Ile660=
ENST00000439256.2:c.78T>A	ENSP00000407058.2:p.Ile26=
ENST00000443672.2:c.315T>A	ENSP00000393548.2:p.Ile105=
ENST00000449547.6:c.73T>A
ENST00000464768.2:n.648T>A
ENST00000644359.1:c.561T>A	ENSP00000494561.1:p.Ile187=
ENST00000644506.1:c.606T>A	ENSP00000496672.1:p.Ile202=
ENST00000644939.1:c.1977T>A	ENSP00000496726.1:p.Ile659=
ENST00000646136.1:n.291T>A
ENST00000647140.1:c.845T>A
ENST00000342771.8:c.1980T>A	ENSP00000344087.4:p.Ile660=
ENST00000406775.6:c.1908T>A	ENSP00000385263.2:p.Ile636=
ENST00000439256.1:c.78T>A
ENST00000464768.1:n.646T>A
ENST00000465899.1:n.477T>A
ENST00000498384.5:n.348T>A
ENST00000611706.4:c.1236T>A	ENSP00000478134.1:p.Ile412=
ENST00000615871.4:c.1164T>A	ENSP00000479325.1:p.Ile388=
NM_001127231.2:c.1908T>A	NP_001120703.1:p.Ile636=
NM_015570.3:c.1980T>A	NP_056385.1:p.Ile660=
XM_005250257.1:c.627T>A	XP_005250314.1:p.Ile209=
XM_011516010.1:c.2001T>A	XP_011514312.1:p.Ile667=
XM_011516011.1:c.1998T>A	XP_011514313.1:p.Ile666=
XM_011516012.1:c.1935T>A	XP_011514314.1:p.Ile645=
XM_011516013.1:c.1929T>A	XP_011514315.1:p.Ile643=
XM_011516014.1:c.1899T>A	XP_011514316.1:p.Ile633=
XM_011516015.1:c.1737T>A	XP_011514317.1:p.Ile579=
XM_011516016.1:c.1710T>A	XP_011514318.1:p.Ile570=
XM_011516017.1:c.1527T>A	XP_011514319.1:p.Ile509=
XM_011516018.1:c.1500T>A	XP_011514320.1:p.Ile500=
XM_005250257.2:c.627T>A	XP_005250314.1:p.Ile209=
XM_011516010.2:c.2001T>A	XP_011514312.1:p.Ile667=
XM_011516011.2:c.1998T>A	XP_011514313.1:p.Ile666=
XM_011516012.2:c.1935T>A	XP_011514314.1:p.Ile645=
XM_011516013.2:c.1929T>A	XP_011514315.1:p.Ile643=
XM_011516014.2:c.1899T>A	XP_011514316.1:p.Ile633=
XM_011516017.2:c.1527T>A	XP_011514319.1:p.Ile509=
XM_011516018.2:c.1500T>A	XP_011514320.1:p.Ile500=
XM_017011951.2:c.2001T>A	XP_016867440.1:p.Ile667=
NM_001127231.3:c.1908T>A	NP_001120703.1:p.Ile636=
NM_015570.4:c.1980T>A MANE Select	NP_056385.1:p.Ile660=