Canonical Allele Identifier: CA367669728

Gene: AUTS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.10A>T	ENSP00000514784.1:p.Lys4Ter
ENST00000342771.10:c.1942A>T MANE Select	ENSP00000344087.4:p.Lys648Ter
ENST00000439256.2:c.40A>T	ENSP00000407058.2:p.Lys14Ter
ENST00000443672.2:c.277A>T	ENSP00000393548.2:p.Lys93Ter
ENST00000449547.6:c.35A>T
ENST00000464768.2:n.610A>T
ENST00000644359.1:c.523A>T	ENSP00000494561.1:p.Lys175Ter
ENST00000644506.1:c.568A>T	ENSP00000496672.1:p.Lys190Ter
ENST00000644939.1:c.1939A>T	ENSP00000496726.1:p.Lys647Ter
ENST00000644949.1:c.273A>T
ENST00000646136.1:n.253A>T
ENST00000647140.1:c.807A>T
ENST00000342771.8:c.1942A>T	ENSP00000344087.4:p.Lys648Ter
ENST00000406775.6:c.1870A>T	ENSP00000385263.2:p.Lys624Ter
ENST00000439256.1:c.40A>T
ENST00000443672.1:c.522A>T
ENST00000464768.1:n.608A>T
ENST00000465899.1:n.439A>T
ENST00000498384.5:n.310A>T
ENST00000611706.4:c.1198A>T	ENSP00000478134.1:p.Lys400Ter
ENST00000615871.4:c.1126A>T	ENSP00000479325.1:p.Lys376Ter
NM_001127231.2:c.1870A>T	NP_001120703.1:p.Lys624Ter
NM_015570.3:c.1942A>T	NP_056385.1:p.Lys648Ter
XM_005250257.1:c.589A>T	XP_005250314.1:p.Lys197Ter
XM_011516010.1:c.1963A>T	XP_011514312.1:p.Lys655Ter
XM_011516011.1:c.1960A>T	XP_011514313.1:p.Lys654Ter
XM_011516012.1:c.1897A>T	XP_011514314.1:p.Lys633Ter
XM_011516013.1:c.1891A>T	XP_011514315.1:p.Lys631Ter
XM_011516014.1:c.1861A>T	XP_011514316.1:p.Lys621Ter
XM_011516015.1:c.1699A>T	XP_011514317.1:p.Lys567Ter
XM_011516016.1:c.1672A>T	XP_011514318.1:p.Lys558Ter
XM_011516017.1:c.1489A>T	XP_011514319.1:p.Lys497Ter
XM_011516018.1:c.1462A>T	XP_011514320.1:p.Lys488Ter
XM_005250257.2:c.589A>T	XP_005250314.1:p.Lys197Ter
XM_011516010.2:c.1963A>T	XP_011514312.1:p.Lys655Ter
XM_011516011.2:c.1960A>T	XP_011514313.1:p.Lys654Ter
XM_011516012.2:c.1897A>T	XP_011514314.1:p.Lys633Ter
XM_011516013.2:c.1891A>T	XP_011514315.1:p.Lys631Ter
XM_011516014.2:c.1861A>T	XP_011514316.1:p.Lys621Ter
XM_011516017.2:c.1489A>T	XP_011514319.1:p.Lys497Ter
XM_011516018.2:c.1462A>T	XP_011514320.1:p.Lys488Ter
XM_017011951.2:c.1963A>T	XP_016867440.1:p.Lys655Ter
NM_001127231.3:c.1870A>T	NP_001120703.1:p.Lys624Ter
NM_015570.4:c.1942A>T MANE Select	NP_056385.1:p.Lys648Ter