Canonical Allele Identifier: CA367668957

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 1164019
• ClinVar RCV Id: RCV001788502
• dbSNP Id: rs1383001370
• MyVariant Identifiers: chr7:g.70231242C>A (hg19) ; chr7:g.70766256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766256C>A , CM000669.2:g.70766256C>A	GRCh38
NC_000007.13:g.70231242C>A , CM000669.1:g.70231242C>A	GRCh37
NC_000007.12:g.69869178C>A	NCBI36
NG_034133.1:g.1172338C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1611C>A MANE Select	ENSP00000344087.4:p.His537Gln
ENST00000443672.2:c.-55C>A	ENSP00000393548.2:n.-55C>A
ENST00000644359.1:c.237C>A	ENSP00000494561.1:p.His79Gln
ENST00000644506.1:c.237C>A	ENSP00000496672.1:p.His79Gln
ENST00000644939.1:c.1608C>A	ENSP00000496726.1:p.His536Gln
ENST00000644949.1:c.23C>A
ENST00000647140.1:c.455C>A
ENST00000656200.1:c.237C>A	ENSP00000499508.1:p.His79Gln
ENST00000342771.8:c.1611C>A	ENSP00000344087.4:p.His537Gln
ENST00000406775.6:c.1611C>A	ENSP00000385263.2:p.His537Gln
ENST00000443672.1:c.236C>A
ENST00000481994.1:n.218C>A
ENST00000611706.4:c.867C>A	ENSP00000478134.1:p.His289Gln
ENST00000615871.4:c.867C>A	ENSP00000479325.1:p.His289Gln
NM_001127231.2:c.1611C>A	NP_001120703.1:p.His537Gln
NM_015570.3:c.1611C>A	NP_056385.1:p.His537Gln
XM_005250257.1:c.237C>A	XP_005250314.1:p.His79Gln
XM_011516010.1:c.1611C>A	XP_011514312.1:p.His537Gln
XM_011516011.1:c.1608C>A	XP_011514313.1:p.His536Gln
XM_011516012.1:c.1611C>A	XP_011514314.1:p.His537Gln
XM_011516013.1:c.1611C>A	XP_011514315.1:p.His537Gln
XM_011516014.1:c.1611C>A	XP_011514316.1:p.His537Gln
XM_011516015.1:c.1611C>A	XP_011514317.1:p.His537Gln
XM_011516016.1:c.1320C>A	XP_011514318.1:p.His440Gln
XM_011516017.1:c.1137C>A	XP_011514319.1:p.His379Gln
XM_011516018.1:c.1110C>A	XP_011514320.1:p.His370Gln
XM_005250257.2:c.237C>A	XP_005250314.1:p.His79Gln
XM_011516010.2:c.1611C>A	XP_011514312.1:p.His537Gln
XM_011516011.2:c.1608C>A	XP_011514313.1:p.His536Gln
XM_011516012.2:c.1611C>A	XP_011514314.1:p.His537Gln
XM_011516013.2:c.1611C>A	XP_011514315.1:p.His537Gln
XM_011516014.2:c.1611C>A	XP_011514316.1:p.His537Gln
XM_011516017.2:c.1137C>A	XP_011514319.1:p.His379Gln
XM_011516018.2:c.1110C>A	XP_011514320.1:p.His370Gln
XM_017011951.2:c.1611C>A	XP_016867440.1:p.His537Gln
NM_001127231.3:c.1611C>A	NP_001120703.1:p.His537Gln
NM_015570.4:c.1611C>A MANE Select	NP_056385.1:p.His537Gln