Canonical Allele Identifier: CA367669774

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 2429956
• ClinVar RCV Id: RCV003127395
• MyVariant Identifiers: chr7:g.70242116G>A (hg19) ; chr7:g.70777130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777130G>A , CM000669.2:g.70777130G>A	GRCh38
NC_000007.13:g.70242116G>A , CM000669.1:g.70242116G>A	GRCh37
NC_000007.12:g.69880052G>A	NCBI36
NG_034133.1:g.1183212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.28G>A	ENSP00000514784.1:p.Val10Ile
ENST00000342771.10:c.1960G>A MANE Select	ENSP00000344087.4:p.Val654Ile
ENST00000439256.2:c.58G>A	ENSP00000407058.2:p.Val20Ile
ENST00000443672.2:c.295G>A	ENSP00000393548.2:p.Val99Ile
ENST00000449547.6:c.53G>A
ENST00000464768.2:n.628G>A
ENST00000644359.1:c.541G>A	ENSP00000494561.1:p.Val181Ile
ENST00000644506.1:c.586G>A	ENSP00000496672.1:p.Val196Ile
ENST00000644939.1:c.1957G>A	ENSP00000496726.1:p.Val653Ile
ENST00000644949.1:c.291G>A
ENST00000646136.1:n.271G>A
ENST00000647140.1:c.825G>A
ENST00000342771.8:c.1960G>A	ENSP00000344087.4:p.Val654Ile
ENST00000406775.6:c.1888G>A	ENSP00000385263.2:p.Val630Ile
ENST00000439256.1:c.58G>A
ENST00000443672.1:c.540G>A
ENST00000464768.1:n.626G>A
ENST00000465899.1:n.457G>A
ENST00000498384.5:n.328G>A
ENST00000611706.4:c.1216G>A	ENSP00000478134.1:p.Val406Ile
ENST00000615871.4:c.1144G>A	ENSP00000479325.1:p.Val382Ile
NM_001127231.2:c.1888G>A	NP_001120703.1:p.Val630Ile
NM_015570.3:c.1960G>A	NP_056385.1:p.Val654Ile
XM_005250257.1:c.607G>A	XP_005250314.1:p.Val203Ile
XM_011516010.1:c.1981G>A	XP_011514312.1:p.Val661Ile
XM_011516011.1:c.1978G>A	XP_011514313.1:p.Val660Ile
XM_011516012.1:c.1915G>A	XP_011514314.1:p.Val639Ile
XM_011516013.1:c.1909G>A	XP_011514315.1:p.Val637Ile
XM_011516014.1:c.1879G>A	XP_011514316.1:p.Val627Ile
XM_011516015.1:c.1717G>A	XP_011514317.1:p.Val573Ile
XM_011516016.1:c.1690G>A	XP_011514318.1:p.Val564Ile
XM_011516017.1:c.1507G>A	XP_011514319.1:p.Val503Ile
XM_011516018.1:c.1480G>A	XP_011514320.1:p.Val494Ile
XM_005250257.2:c.607G>A	XP_005250314.1:p.Val203Ile
XM_011516010.2:c.1981G>A	XP_011514312.1:p.Val661Ile
XM_011516011.2:c.1978G>A	XP_011514313.1:p.Val660Ile
XM_011516012.2:c.1915G>A	XP_011514314.1:p.Val639Ile
XM_011516013.2:c.1909G>A	XP_011514315.1:p.Val637Ile
XM_011516014.2:c.1879G>A	XP_011514316.1:p.Val627Ile
XM_011516017.2:c.1507G>A	XP_011514319.1:p.Val503Ile
XM_011516018.2:c.1480G>A	XP_011514320.1:p.Val494Ile
XM_017011951.2:c.1981G>A	XP_016867440.1:p.Val661Ile
NM_001127231.3:c.1888G>A	NP_001120703.1:p.Val630Ile
NM_015570.4:c.1960G>A MANE Select	NP_056385.1:p.Val654Ile