Canonical Allele Identifier: CA367669723

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242095G>T (hg19) ; chr7:g.70777109G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777109G>T , CM000669.2:g.70777109G>T	GRCh38
NC_000007.13:g.70242095G>T , CM000669.1:g.70242095G>T	GRCh37
NC_000007.12:g.69880031G>T	NCBI36
NG_034133.1:g.1183191G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.7G>T	ENSP00000514784.1:p.Gly3Trp
ENST00000342771.10:c.1939G>T MANE Select	ENSP00000344087.4:p.Gly647Trp
ENST00000439256.2:c.37G>T	ENSP00000407058.2:p.Gly13Trp
ENST00000443672.2:c.274G>T	ENSP00000393548.2:p.Gly92Trp
ENST00000449547.6:c.32G>T
ENST00000464768.2:n.607G>T
ENST00000644359.1:c.520G>T	ENSP00000494561.1:p.Gly174Trp
ENST00000644506.1:c.565G>T	ENSP00000496672.1:p.Gly189Trp
ENST00000644939.1:c.1936G>T	ENSP00000496726.1:p.Gly646Trp
ENST00000644949.1:c.270G>T
ENST00000646136.1:n.250G>T
ENST00000647140.1:c.804G>T
ENST00000342771.8:c.1939G>T	ENSP00000344087.4:p.Gly647Trp
ENST00000406775.6:c.1867G>T	ENSP00000385263.2:p.Gly623Trp
ENST00000439256.1:c.37G>T
ENST00000443672.1:c.519G>T
ENST00000464768.1:n.605G>T
ENST00000465899.1:n.436G>T
ENST00000498384.5:n.307G>T
ENST00000611706.4:c.1195G>T	ENSP00000478134.1:p.Gly399Trp
ENST00000615871.4:c.1123G>T	ENSP00000479325.1:p.Gly375Trp
NM_001127231.2:c.1867G>T	NP_001120703.1:p.Gly623Trp
NM_015570.3:c.1939G>T	NP_056385.1:p.Gly647Trp
XM_005250257.1:c.586G>T	XP_005250314.1:p.Gly196Trp
XM_011516010.1:c.1960G>T	XP_011514312.1:p.Gly654Trp
XM_011516011.1:c.1957G>T	XP_011514313.1:p.Gly653Trp
XM_011516012.1:c.1894G>T	XP_011514314.1:p.Gly632Trp
XM_011516013.1:c.1888G>T	XP_011514315.1:p.Gly630Trp
XM_011516014.1:c.1858G>T	XP_011514316.1:p.Gly620Trp
XM_011516015.1:c.1696G>T	XP_011514317.1:p.Gly566Trp
XM_011516016.1:c.1669G>T	XP_011514318.1:p.Gly557Trp
XM_011516017.1:c.1486G>T	XP_011514319.1:p.Gly496Trp
XM_011516018.1:c.1459G>T	XP_011514320.1:p.Gly487Trp
XM_005250257.2:c.586G>T	XP_005250314.1:p.Gly196Trp
XM_011516010.2:c.1960G>T	XP_011514312.1:p.Gly654Trp
XM_011516011.2:c.1957G>T	XP_011514313.1:p.Gly653Trp
XM_011516012.2:c.1894G>T	XP_011514314.1:p.Gly632Trp
XM_011516013.2:c.1888G>T	XP_011514315.1:p.Gly630Trp
XM_011516014.2:c.1858G>T	XP_011514316.1:p.Gly620Trp
XM_011516017.2:c.1486G>T	XP_011514319.1:p.Gly496Trp
XM_011516018.2:c.1459G>T	XP_011514320.1:p.Gly487Trp
XM_017011951.2:c.1960G>T	XP_016867440.1:p.Gly654Trp
NM_001127231.3:c.1867G>T	NP_001120703.1:p.Gly623Trp
NM_015570.4:c.1939G>T MANE Select	NP_056385.1:p.Gly647Trp