Canonical Allele Identifier: CA456029841

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70228079T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70763093T>C , CM000669.2:g.70763093T>C	GRCh38
NC_000007.13:g.70228079T>C , CM000669.1:g.70228079T>C	GRCh37
NC_000007.12:g.69866015T>C	NCBI36
NG_034133.1:g.1169175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.966T>C MANE Select	ENSP00000344087.4:p.Pro322=
ENST00000443672.2:c.-197-3021T>C	ENSP00000393548.2:n.-197-3021T>C
ENST00000644359.1:c.-406T>C	ENSP00000494561.1:n.-406T>C
ENST00000644506.1:c.-406T>C	ENSP00000496672.1:n.-406T>C
ENST00000644939.1:c.966T>C	ENSP00000496726.1:p.Pro322=
ENST00000656200.1:c.-409T>C	ENSP00000499508.1:n.-409T>C
ENST00000342771.8:c.966T>C	ENSP00000344087.4:p.Pro322=
ENST00000406775.6:c.966T>C	ENSP00000385263.2:p.Pro322=
ENST00000416482.1:c.307T>C
ENST00000611706.4:c.222T>C	ENSP00000478134.1:p.Pro74=
ENST00000615871.4:c.222T>C	ENSP00000479325.1:p.Pro74=
NM_001127231.2:c.966T>C	NP_001120703.1:p.Pro322=
NM_015570.3:c.966T>C	NP_056385.1:p.Pro322=
XM_011516010.1:c.966T>C	XP_011514312.1:p.Pro322=
XM_011516011.1:c.966T>C	XP_011514313.1:p.Pro322=
XM_011516012.1:c.966T>C	XP_011514314.1:p.Pro322=
XM_011516013.1:c.966T>C	XP_011514315.1:p.Pro322=
XM_011516014.1:c.966T>C	XP_011514316.1:p.Pro322=
XM_011516015.1:c.966T>C	XP_011514317.1:p.Pro322=
XM_011516016.1:c.675T>C	XP_011514318.1:p.Pro225=
XM_011516017.1:c.492T>C	XP_011514319.1:p.Pro164=
XM_011516018.1:c.465T>C	XP_011514320.1:p.Pro155=
XM_011516010.2:c.966T>C	XP_011514312.1:p.Pro322=
XM_011516011.2:c.966T>C	XP_011514313.1:p.Pro322=
XM_011516012.2:c.966T>C	XP_011514314.1:p.Pro322=
XM_011516013.2:c.966T>C	XP_011514315.1:p.Pro322=
XM_011516014.2:c.966T>C	XP_011514316.1:p.Pro322=
XM_011516017.2:c.492T>C	XP_011514319.1:p.Pro164=
XM_011516018.2:c.465T>C	XP_011514320.1:p.Pro155=
XM_017011951.2:c.966T>C	XP_016867440.1:p.Pro322=
NM_001127231.3:c.966T>C	NP_001120703.1:p.Pro322=
NM_015570.4:c.966T>C MANE Select	NP_056385.1:p.Pro322=