Canonical Allele Identifier: CA455803118

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242106T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777120T>C , CM000669.2:g.70777120T>C	GRCh38
NC_000007.13:g.70242106T>C , CM000669.1:g.70242106T>C	GRCh37
NC_000007.12:g.69880042T>C	NCBI36
NG_034133.1:g.1183202T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.18T>C	ENSP00000514784.1:p.Cys6=
ENST00000342771.10:c.1950T>C MANE Select	ENSP00000344087.4:p.Cys650=
ENST00000439256.2:c.48T>C	ENSP00000407058.2:p.Cys16=
ENST00000443672.2:c.285T>C	ENSP00000393548.2:p.Cys95=
ENST00000449547.6:c.43T>C
ENST00000464768.2:n.618T>C
ENST00000644359.1:c.531T>C	ENSP00000494561.1:p.Cys177=
ENST00000644506.1:c.576T>C	ENSP00000496672.1:p.Cys192=
ENST00000644939.1:c.1947T>C	ENSP00000496726.1:p.Cys649=
ENST00000644949.1:c.281T>C
ENST00000646136.1:n.261T>C
ENST00000647140.1:c.815T>C
ENST00000342771.8:c.1950T>C	ENSP00000344087.4:p.Cys650=
ENST00000406775.6:c.1878T>C	ENSP00000385263.2:p.Cys626=
ENST00000439256.1:c.48T>C
ENST00000443672.1:c.530T>C
ENST00000464768.1:n.616T>C
ENST00000465899.1:n.447T>C
ENST00000498384.5:n.318T>C
ENST00000611706.4:c.1206T>C	ENSP00000478134.1:p.Cys402=
ENST00000615871.4:c.1134T>C	ENSP00000479325.1:p.Cys378=
NM_001127231.2:c.1878T>C	NP_001120703.1:p.Cys626=
NM_015570.3:c.1950T>C	NP_056385.1:p.Cys650=
XM_005250257.1:c.597T>C	XP_005250314.1:p.Cys199=
XM_011516010.1:c.1971T>C	XP_011514312.1:p.Cys657=
XM_011516011.1:c.1968T>C	XP_011514313.1:p.Cys656=
XM_011516012.1:c.1905T>C	XP_011514314.1:p.Cys635=
XM_011516013.1:c.1899T>C	XP_011514315.1:p.Cys633=
XM_011516014.1:c.1869T>C	XP_011514316.1:p.Cys623=
XM_011516015.1:c.1707T>C	XP_011514317.1:p.Cys569=
XM_011516016.1:c.1680T>C	XP_011514318.1:p.Cys560=
XM_011516017.1:c.1497T>C	XP_011514319.1:p.Cys499=
XM_011516018.1:c.1470T>C	XP_011514320.1:p.Cys490=
XM_005250257.2:c.597T>C	XP_005250314.1:p.Cys199=
XM_011516010.2:c.1971T>C	XP_011514312.1:p.Cys657=
XM_011516011.2:c.1968T>C	XP_011514313.1:p.Cys656=
XM_011516012.2:c.1905T>C	XP_011514314.1:p.Cys635=
XM_011516013.2:c.1899T>C	XP_011514315.1:p.Cys633=
XM_011516014.2:c.1869T>C	XP_011514316.1:p.Cys623=
XM_011516017.2:c.1497T>C	XP_011514319.1:p.Cys499=
XM_011516018.2:c.1470T>C	XP_011514320.1:p.Cys490=
XM_017011951.2:c.1971T>C	XP_016867440.1:p.Cys657=
NM_001127231.3:c.1878T>C	NP_001120703.1:p.Cys626=
NM_015570.4:c.1950T>C MANE Select	NP_056385.1:p.Cys650=