Canonical Allele Identifier: CA367669778

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242117T>C (hg19) ; chr7:g.70777131T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777131T>C , CM000669.2:g.70777131T>C	GRCh38
NC_000007.13:g.70242117T>C , CM000669.1:g.70242117T>C	GRCh37
NC_000007.12:g.69880053T>C	NCBI36
NG_034133.1:g.1183213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.29T>C	ENSP00000514784.1:p.Val10Ala
ENST00000342771.10:c.1961T>C MANE Select	ENSP00000344087.4:p.Val654Ala
ENST00000439256.2:c.59T>C	ENSP00000407058.2:p.Val20Ala
ENST00000443672.2:c.296T>C	ENSP00000393548.2:p.Val99Ala
ENST00000449547.6:c.54T>C
ENST00000464768.2:n.629T>C
ENST00000644359.1:c.542T>C	ENSP00000494561.1:p.Val181Ala
ENST00000644506.1:c.587T>C	ENSP00000496672.1:p.Val196Ala
ENST00000644939.1:c.1958T>C	ENSP00000496726.1:p.Val653Ala
ENST00000644949.1:c.292T>C
ENST00000646136.1:n.272T>C
ENST00000647140.1:c.826T>C
ENST00000342771.8:c.1961T>C	ENSP00000344087.4:p.Val654Ala
ENST00000406775.6:c.1889T>C	ENSP00000385263.2:p.Val630Ala
ENST00000439256.1:c.59T>C
ENST00000443672.1:c.541T>C
ENST00000464768.1:n.627T>C
ENST00000465899.1:n.458T>C
ENST00000498384.5:n.329T>C
ENST00000611706.4:c.1217T>C	ENSP00000478134.1:p.Val406Ala
ENST00000615871.4:c.1145T>C	ENSP00000479325.1:p.Val382Ala
NM_001127231.2:c.1889T>C	NP_001120703.1:p.Val630Ala
NM_015570.3:c.1961T>C	NP_056385.1:p.Val654Ala
XM_005250257.1:c.608T>C	XP_005250314.1:p.Val203Ala
XM_011516010.1:c.1982T>C	XP_011514312.1:p.Val661Ala
XM_011516011.1:c.1979T>C	XP_011514313.1:p.Val660Ala
XM_011516012.1:c.1916T>C	XP_011514314.1:p.Val639Ala
XM_011516013.1:c.1910T>C	XP_011514315.1:p.Val637Ala
XM_011516014.1:c.1880T>C	XP_011514316.1:p.Val627Ala
XM_011516015.1:c.1718T>C	XP_011514317.1:p.Val573Ala
XM_011516016.1:c.1691T>C	XP_011514318.1:p.Val564Ala
XM_011516017.1:c.1508T>C	XP_011514319.1:p.Val503Ala
XM_011516018.1:c.1481T>C	XP_011514320.1:p.Val494Ala
XM_005250257.2:c.608T>C	XP_005250314.1:p.Val203Ala
XM_011516010.2:c.1982T>C	XP_011514312.1:p.Val661Ala
XM_011516011.2:c.1979T>C	XP_011514313.1:p.Val660Ala
XM_011516012.2:c.1916T>C	XP_011514314.1:p.Val639Ala
XM_011516013.2:c.1910T>C	XP_011514315.1:p.Val637Ala
XM_011516014.2:c.1880T>C	XP_011514316.1:p.Val627Ala
XM_011516017.2:c.1508T>C	XP_011514319.1:p.Val503Ala
XM_011516018.2:c.1481T>C	XP_011514320.1:p.Val494Ala
XM_017011951.2:c.1982T>C	XP_016867440.1:p.Val661Ala
NM_001127231.3:c.1889T>C	NP_001120703.1:p.Val630Ala
NM_015570.4:c.1961T>C MANE Select	NP_056385.1:p.Val654Ala