Canonical Allele Identifier: CA367669727

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242098A>C (hg19) ; chr7:g.70777112A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777112A>C , CM000669.2:g.70777112A>C	GRCh38
NC_000007.13:g.70242098A>C , CM000669.1:g.70242098A>C	GRCh37
NC_000007.12:g.69880034A>C	NCBI36
NG_034133.1:g.1183194A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.10A>C	ENSP00000514784.1:p.Lys4Gln
ENST00000342771.10:c.1942A>C MANE Select	ENSP00000344087.4:p.Lys648Gln
ENST00000439256.2:c.40A>C	ENSP00000407058.2:p.Lys14Gln
ENST00000443672.2:c.277A>C	ENSP00000393548.2:p.Lys93Gln
ENST00000449547.6:c.35A>C
ENST00000464768.2:n.610A>C
ENST00000644359.1:c.523A>C	ENSP00000494561.1:p.Lys175Gln
ENST00000644506.1:c.568A>C	ENSP00000496672.1:p.Lys190Gln
ENST00000644939.1:c.1939A>C	ENSP00000496726.1:p.Lys647Gln
ENST00000644949.1:c.273A>C
ENST00000646136.1:n.253A>C
ENST00000647140.1:c.807A>C
ENST00000342771.8:c.1942A>C	ENSP00000344087.4:p.Lys648Gln
ENST00000406775.6:c.1870A>C	ENSP00000385263.2:p.Lys624Gln
ENST00000439256.1:c.40A>C
ENST00000443672.1:c.522A>C
ENST00000464768.1:n.608A>C
ENST00000465899.1:n.439A>C
ENST00000498384.5:n.310A>C
ENST00000611706.4:c.1198A>C	ENSP00000478134.1:p.Lys400Gln
ENST00000615871.4:c.1126A>C	ENSP00000479325.1:p.Lys376Gln
NM_001127231.2:c.1870A>C	NP_001120703.1:p.Lys624Gln
NM_015570.3:c.1942A>C	NP_056385.1:p.Lys648Gln
XM_005250257.1:c.589A>C	XP_005250314.1:p.Lys197Gln
XM_011516010.1:c.1963A>C	XP_011514312.1:p.Lys655Gln
XM_011516011.1:c.1960A>C	XP_011514313.1:p.Lys654Gln
XM_011516012.1:c.1897A>C	XP_011514314.1:p.Lys633Gln
XM_011516013.1:c.1891A>C	XP_011514315.1:p.Lys631Gln
XM_011516014.1:c.1861A>C	XP_011514316.1:p.Lys621Gln
XM_011516015.1:c.1699A>C	XP_011514317.1:p.Lys567Gln
XM_011516016.1:c.1672A>C	XP_011514318.1:p.Lys558Gln
XM_011516017.1:c.1489A>C	XP_011514319.1:p.Lys497Gln
XM_011516018.1:c.1462A>C	XP_011514320.1:p.Lys488Gln
XM_005250257.2:c.589A>C	XP_005250314.1:p.Lys197Gln
XM_011516010.2:c.1963A>C	XP_011514312.1:p.Lys655Gln
XM_011516011.2:c.1960A>C	XP_011514313.1:p.Lys654Gln
XM_011516012.2:c.1897A>C	XP_011514314.1:p.Lys633Gln
XM_011516013.2:c.1891A>C	XP_011514315.1:p.Lys631Gln
XM_011516014.2:c.1861A>C	XP_011514316.1:p.Lys621Gln
XM_011516017.2:c.1489A>C	XP_011514319.1:p.Lys497Gln
XM_011516018.2:c.1462A>C	XP_011514320.1:p.Lys488Gln
XM_017011951.2:c.1963A>C	XP_016867440.1:p.Lys655Gln
NM_001127231.3:c.1870A>C	NP_001120703.1:p.Lys624Gln
NM_015570.4:c.1942A>C MANE Select	NP_056385.1:p.Lys648Gln