Canonical Allele Identifier: CA367667467

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 982997
• ClinVar RCV Id: RCV001262783
• dbSNP Id: rs1789667169
• MyVariant Identifiers: chr7:g.70228029A>G (hg19) ; chr7:g.70763043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70763043A>G , CM000669.2:g.70763043A>G	GRCh38
NC_000007.13:g.70228029A>G , CM000669.1:g.70228029A>G	GRCh37
NC_000007.12:g.69865965A>G	NCBI36
NG_034133.1:g.1169125A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.916A>G MANE Select	ENSP00000344087.4:p.Ile306Val
ENST00000443672.2:c.-197-3071A>G	ENSP00000393548.2:n.-197-3071A>G
ENST00000644359.1:c.-456A>G	ENSP00000494561.1:n.-456A>G
ENST00000644506.1:c.-456A>G	ENSP00000496672.1:n.-456A>G
ENST00000644939.1:c.916A>G	ENSP00000496726.1:p.Ile306Val
ENST00000656200.1:c.-459A>G	ENSP00000499508.1:n.-459A>G
ENST00000342771.8:c.916A>G	ENSP00000344087.4:p.Ile306Val
ENST00000406775.6:c.916A>G	ENSP00000385263.2:p.Ile306Val
ENST00000416482.1:c.257A>G
ENST00000611706.4:c.172A>G	ENSP00000478134.1:p.Ile58Val
ENST00000615871.4:c.172A>G	ENSP00000479325.1:p.Ile58Val
NM_001127231.2:c.916A>G	NP_001120703.1:p.Ile306Val
NM_015570.3:c.916A>G	NP_056385.1:p.Ile306Val
XM_011516010.1:c.916A>G	XP_011514312.1:p.Ile306Val
XM_011516011.1:c.916A>G	XP_011514313.1:p.Ile306Val
XM_011516012.1:c.916A>G	XP_011514314.1:p.Ile306Val
XM_011516013.1:c.916A>G	XP_011514315.1:p.Ile306Val
XM_011516014.1:c.916A>G	XP_011514316.1:p.Ile306Val
XM_011516015.1:c.916A>G	XP_011514317.1:p.Ile306Val
XM_011516016.1:c.625A>G	XP_011514318.1:p.Ile209Val
XM_011516017.1:c.442A>G	XP_011514319.1:p.Ile148Val
XM_011516018.1:c.415A>G	XP_011514320.1:p.Ile139Val
XM_011516010.2:c.916A>G	XP_011514312.1:p.Ile306Val
XM_011516011.2:c.916A>G	XP_011514313.1:p.Ile306Val
XM_011516012.2:c.916A>G	XP_011514314.1:p.Ile306Val
XM_011516013.2:c.916A>G	XP_011514315.1:p.Ile306Val
XM_011516014.2:c.916A>G	XP_011514316.1:p.Ile306Val
XM_011516017.2:c.442A>G	XP_011514319.1:p.Ile148Val
XM_011516018.2:c.415A>G	XP_011514320.1:p.Ile139Val
XM_017011951.2:c.916A>G	XP_016867440.1:p.Ile306Val
NM_001127231.3:c.916A>G	NP_001120703.1:p.Ile306Val
NM_015570.4:c.916A>G MANE Select	NP_056385.1:p.Ile306Val