Canonical Allele Identifier: CA160034317

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 2576098
• ClinVar RCV Id: RCV003322159
• dbSNP Id: rs959384891
• gnomAD v2: 7-70242155-G-A
• gnomAD v3: 7-70777169-G-A
• gnomAD v4: 7-70777169-G-A
• MyVariant Identifiers: chr7:g.70242155G>A (hg19) ; chr7:g.70777169G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777169G>A , CM000669.2:g.70777169G>A	GRCh38
NC_000007.13:g.70242155G>A , CM000669.1:g.70242155G>A	GRCh37
NC_000007.12:g.69880091G>A	NCBI36
NG_034133.1:g.1183251G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.67G>A	ENSP00000514784.1:p.Val23Ile
ENST00000342771.10:c.1999G>A MANE Select	ENSP00000344087.4:p.Val667Ile
ENST00000439256.2:c.97G>A	ENSP00000407058.2:p.Val33Ile
ENST00000443672.2:c.334G>A	ENSP00000393548.2:p.Val112Ile
ENST00000449547.6:c.92G>A
ENST00000464768.2:n.667G>A
ENST00000644359.1:c.580G>A	ENSP00000494561.1:p.Val194Ile
ENST00000644506.1:c.625G>A	ENSP00000496672.1:p.Val209Ile
ENST00000644939.1:c.1996G>A	ENSP00000496726.1:p.Val666Ile
ENST00000646136.1:n.310G>A
ENST00000647140.1:c.864G>A
ENST00000342771.8:c.1999G>A	ENSP00000344087.4:p.Val667Ile
ENST00000406775.6:c.1927G>A	ENSP00000385263.2:p.Val643Ile
ENST00000439256.1:c.97G>A
ENST00000464768.1:n.665G>A
ENST00000465899.1:n.496G>A
ENST00000498384.5:n.367G>A
ENST00000611706.4:c.1255G>A	ENSP00000478134.1:p.Val419Ile
ENST00000615871.4:c.1183G>A	ENSP00000479325.1:p.Val395Ile
NM_001127231.2:c.1927G>A	NP_001120703.1:p.Val643Ile
NM_015570.3:c.1999G>A	NP_056385.1:p.Val667Ile
XM_005250257.1:c.646G>A	XP_005250314.1:p.Val216Ile
XM_011516010.1:c.2020G>A	XP_011514312.1:p.Val674Ile
XM_011516011.1:c.2017G>A	XP_011514313.1:p.Val673Ile
XM_011516012.1:c.1954G>A	XP_011514314.1:p.Val652Ile
XM_011516013.1:c.1948G>A	XP_011514315.1:p.Val650Ile
XM_011516014.1:c.1918G>A	XP_011514316.1:p.Val640Ile
XM_011516015.1:c.1756G>A	XP_011514317.1:p.Val586Ile
XM_011516016.1:c.1729G>A	XP_011514318.1:p.Val577Ile
XM_011516017.1:c.1546G>A	XP_011514319.1:p.Val516Ile
XM_011516018.1:c.1519G>A	XP_011514320.1:p.Val507Ile
XM_005250257.2:c.646G>A	XP_005250314.1:p.Val216Ile
XM_011516010.2:c.2020G>A	XP_011514312.1:p.Val674Ile
XM_011516011.2:c.2017G>A	XP_011514313.1:p.Val673Ile
XM_011516012.2:c.1954G>A	XP_011514314.1:p.Val652Ile
XM_011516013.2:c.1948G>A	XP_011514315.1:p.Val650Ile
XM_011516014.2:c.1918G>A	XP_011514316.1:p.Val640Ile
XM_011516017.2:c.1546G>A	XP_011514319.1:p.Val516Ile
XM_011516018.2:c.1519G>A	XP_011514320.1:p.Val507Ile
XM_017011951.2:c.2020G>A	XP_016867440.1:p.Val674Ile
NM_001127231.3:c.1927G>A	NP_001120703.1:p.Val643Ile
NM_015570.4:c.1999G>A MANE Select	NP_056385.1:p.Val667Ile