Canonical Allele Identifier: CA367669730

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242099A>C (hg19) ; chr7:g.70777113A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777113A>C , CM000669.2:g.70777113A>C	GRCh38
NC_000007.13:g.70242099A>C , CM000669.1:g.70242099A>C	GRCh37
NC_000007.12:g.69880035A>C	NCBI36
NG_034133.1:g.1183195A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.11A>C	ENSP00000514784.1:p.Lys4Thr
ENST00000342771.10:c.1943A>C MANE Select	ENSP00000344087.4:p.Lys648Thr
ENST00000439256.2:c.41A>C	ENSP00000407058.2:p.Lys14Thr
ENST00000443672.2:c.278A>C	ENSP00000393548.2:p.Lys93Thr
ENST00000449547.6:c.36A>C
ENST00000464768.2:n.611A>C
ENST00000644359.1:c.524A>C	ENSP00000494561.1:p.Lys175Thr
ENST00000644506.1:c.569A>C	ENSP00000496672.1:p.Lys190Thr
ENST00000644939.1:c.1940A>C	ENSP00000496726.1:p.Lys647Thr
ENST00000644949.1:c.274A>C
ENST00000646136.1:n.254A>C
ENST00000647140.1:c.808A>C
ENST00000342771.8:c.1943A>C	ENSP00000344087.4:p.Lys648Thr
ENST00000406775.6:c.1871A>C	ENSP00000385263.2:p.Lys624Thr
ENST00000439256.1:c.41A>C
ENST00000443672.1:c.523A>C
ENST00000464768.1:n.609A>C
ENST00000465899.1:n.440A>C
ENST00000498384.5:n.311A>C
ENST00000611706.4:c.1199A>C	ENSP00000478134.1:p.Lys400Thr
ENST00000615871.4:c.1127A>C	ENSP00000479325.1:p.Lys376Thr
NM_001127231.2:c.1871A>C	NP_001120703.1:p.Lys624Thr
NM_015570.3:c.1943A>C	NP_056385.1:p.Lys648Thr
XM_005250257.1:c.590A>C	XP_005250314.1:p.Lys197Thr
XM_011516010.1:c.1964A>C	XP_011514312.1:p.Lys655Thr
XM_011516011.1:c.1961A>C	XP_011514313.1:p.Lys654Thr
XM_011516012.1:c.1898A>C	XP_011514314.1:p.Lys633Thr
XM_011516013.1:c.1892A>C	XP_011514315.1:p.Lys631Thr
XM_011516014.1:c.1862A>C	XP_011514316.1:p.Lys621Thr
XM_011516015.1:c.1700A>C	XP_011514317.1:p.Lys567Thr
XM_011516016.1:c.1673A>C	XP_011514318.1:p.Lys558Thr
XM_011516017.1:c.1490A>C	XP_011514319.1:p.Lys497Thr
XM_011516018.1:c.1463A>C	XP_011514320.1:p.Lys488Thr
XM_005250257.2:c.590A>C	XP_005250314.1:p.Lys197Thr
XM_011516010.2:c.1964A>C	XP_011514312.1:p.Lys655Thr
XM_011516011.2:c.1961A>C	XP_011514313.1:p.Lys654Thr
XM_011516012.2:c.1898A>C	XP_011514314.1:p.Lys633Thr
XM_011516013.2:c.1892A>C	XP_011514315.1:p.Lys631Thr
XM_011516014.2:c.1862A>C	XP_011514316.1:p.Lys621Thr
XM_011516017.2:c.1490A>C	XP_011514319.1:p.Lys497Thr
XM_011516018.2:c.1463A>C	XP_011514320.1:p.Lys488Thr
XM_017011951.2:c.1964A>C	XP_016867440.1:p.Lys655Thr
NM_001127231.3:c.1871A>C	NP_001120703.1:p.Lys624Thr
NM_015570.4:c.1943A>C MANE Select	NP_056385.1:p.Lys648Thr