Canonical Allele Identifier: CA16042597

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 372310
• ClinVar RCV Id: RCV000413202 ; RCV001260885 ; RCV001841277
• dbSNP Id: rs1057517708
• MyVariant Identifiers: chr7:g.70231114C>T (hg19) ; chr7:g.70766128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766128C>T , CM000669.2:g.70766128C>T	GRCh38
NC_000007.13:g.70231114C>T , CM000669.1:g.70231114C>T	GRCh37
NC_000007.12:g.69869050C>T	NCBI36
NG_034133.1:g.1172210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1483C>T MANE Select	ENSP00000344087.4:p.Arg495Ter
ENST00000443672.2:c.-183C>T	ENSP00000393548.2:n.-183C>T
ENST00000644359.1:c.109C>T	ENSP00000494561.1:p.Arg37Ter
ENST00000644506.1:c.109C>T	ENSP00000496672.1:p.Arg37Ter
ENST00000644939.1:c.1480C>T	ENSP00000496726.1:p.Arg494Ter
ENST00000647140.1:c.327C>T
ENST00000656200.1:c.109C>T	ENSP00000499508.1:p.Arg37Ter
ENST00000342771.8:c.1483C>T	ENSP00000344087.4:p.Arg495Ter
ENST00000406775.6:c.1483C>T	ENSP00000385263.2:p.Arg495Ter
ENST00000443672.1:c.108C>T
ENST00000481994.1:n.90C>T
ENST00000611706.4:c.739C>T	ENSP00000478134.1:p.Arg247Ter
ENST00000615871.4:c.739C>T	ENSP00000479325.1:p.Arg247Ter
NM_001127231.2:c.1483C>T	NP_001120703.1:p.Arg495Ter
NM_015570.3:c.1483C>T	NP_056385.1:p.Arg495Ter
XM_005250257.1:c.109C>T	XP_005250314.1:p.Arg37Ter
XM_011516010.1:c.1483C>T	XP_011514312.1:p.Arg495Ter
XM_011516011.1:c.1480C>T	XP_011514313.1:p.Arg494Ter
XM_011516012.1:c.1483C>T	XP_011514314.1:p.Arg495Ter
XM_011516013.1:c.1483C>T	XP_011514315.1:p.Arg495Ter
XM_011516014.1:c.1483C>T	XP_011514316.1:p.Arg495Ter
XM_011516015.1:c.1483C>T	XP_011514317.1:p.Arg495Ter
XM_011516016.1:c.1192C>T	XP_011514318.1:p.Arg398Ter
XM_011516017.1:c.1009C>T	XP_011514319.1:p.Arg337Ter
XM_011516018.1:c.982C>T	XP_011514320.1:p.Arg328Ter
XM_005250257.2:c.109C>T	XP_005250314.1:p.Arg37Ter
XM_011516010.2:c.1483C>T	XP_011514312.1:p.Arg495Ter
XM_011516011.2:c.1480C>T	XP_011514313.1:p.Arg494Ter
XM_011516012.2:c.1483C>T	XP_011514314.1:p.Arg495Ter
XM_011516013.2:c.1483C>T	XP_011514315.1:p.Arg495Ter
XM_011516014.2:c.1483C>T	XP_011514316.1:p.Arg495Ter
XM_011516017.2:c.1009C>T	XP_011514319.1:p.Arg337Ter
XM_011516018.2:c.982C>T	XP_011514320.1:p.Arg328Ter
XM_017011951.2:c.1483C>T	XP_016867440.1:p.Arg495Ter
NM_001127231.3:c.1483C>T	NP_001120703.1:p.Arg495Ter
NM_015570.4:c.1483C>T MANE Select	NP_056385.1:p.Arg495Ter