Canonical Allele Identifier: CA4280534

Gene: AUTS2

Linked Data

• dbSNP Id: rs750480720
• ExAC: 7:70228114 C / A
• gnomAD v2: 7-70228114-C-A
• gnomAD v4: 7-70763128-C-A
• MyVariant Identifiers: chr7:g.70228114C>A (hg19) ; chr7:g.70763128C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70763128C>A , CM000669.2:g.70763128C>A	GRCh38
NC_000007.13:g.70228114C>A , CM000669.1:g.70228114C>A	GRCh37
NC_000007.12:g.69866050C>A	NCBI36
NG_034133.1:g.1169210C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1001C>A MANE Select	ENSP00000344087.4:p.Pro334His
ENST00000443672.2:c.-197-2986C>A	ENSP00000393548.2:n.-197-2986C>A
ENST00000644359.1:c.-371C>A	ENSP00000494561.1:n.-371C>A
ENST00000644506.1:c.-371C>A	ENSP00000496672.1:n.-371C>A
ENST00000644939.1:c.1001C>A	ENSP00000496726.1:p.Pro334His
ENST00000656200.1:c.-374C>A	ENSP00000499508.1:n.-374C>A
ENST00000342771.8:c.1001C>A	ENSP00000344087.4:p.Pro334His
ENST00000406775.6:c.1001C>A	ENSP00000385263.2:p.Pro334His
ENST00000416482.1:c.342C>A
ENST00000611706.4:c.257C>A	ENSP00000478134.1:p.Pro86His
ENST00000615871.4:c.257C>A	ENSP00000479325.1:p.Pro86His
NM_001127231.2:c.1001C>A	NP_001120703.1:p.Pro334His
NM_015570.3:c.1001C>A	NP_056385.1:p.Pro334His
XM_011516010.1:c.1001C>A	XP_011514312.1:p.Pro334His
XM_011516011.1:c.1001C>A	XP_011514313.1:p.Pro334His
XM_011516012.1:c.1001C>A	XP_011514314.1:p.Pro334His
XM_011516013.1:c.1001C>A	XP_011514315.1:p.Pro334His
XM_011516014.1:c.1001C>A	XP_011514316.1:p.Pro334His
XM_011516015.1:c.1001C>A	XP_011514317.1:p.Pro334His
XM_011516016.1:c.710C>A	XP_011514318.1:p.Pro237His
XM_011516017.1:c.527C>A	XP_011514319.1:p.Pro176His
XM_011516018.1:c.500C>A	XP_011514320.1:p.Pro167His
XM_011516010.2:c.1001C>A	XP_011514312.1:p.Pro334His
XM_011516011.2:c.1001C>A	XP_011514313.1:p.Pro334His
XM_011516012.2:c.1001C>A	XP_011514314.1:p.Pro334His
XM_011516013.2:c.1001C>A	XP_011514315.1:p.Pro334His
XM_011516014.2:c.1001C>A	XP_011514316.1:p.Pro334His
XM_011516017.2:c.527C>A	XP_011514319.1:p.Pro176His
XM_011516018.2:c.500C>A	XP_011514320.1:p.Pro167His
XM_017011951.2:c.1001C>A	XP_016867440.1:p.Pro334His
NM_001127231.3:c.1001C>A	NP_001120703.1:p.Pro334His
NM_015570.4:c.1001C>A MANE Select	NP_056385.1:p.Pro334His