Canonical Allele Identifier: CA455803149

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70777171-C-T
• MyVariant Identifiers: chr7:g.70242157C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777171C>T , CM000669.2:g.70777171C>T	GRCh38
NC_000007.13:g.70242157C>T , CM000669.1:g.70242157C>T	GRCh37
NC_000007.12:g.69880093C>T	NCBI36
NG_034133.1:g.1183253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.69C>T	ENSP00000514784.1:p.Val23=
ENST00000342771.10:c.2001C>T MANE Select	ENSP00000344087.4:p.Val667=
ENST00000439256.2:c.99C>T	ENSP00000407058.2:p.Val33=
ENST00000443672.2:c.336C>T	ENSP00000393548.2:p.Val112=
ENST00000449547.6:c.94C>T
ENST00000464768.2:n.669C>T
ENST00000644359.1:c.582C>T	ENSP00000494561.1:p.Val194=
ENST00000644506.1:c.627C>T	ENSP00000496672.1:p.Val209=
ENST00000644939.1:c.1998C>T	ENSP00000496726.1:p.Val666=
ENST00000646136.1:n.312C>T
ENST00000647140.1:c.866C>T
ENST00000342771.8:c.2001C>T	ENSP00000344087.4:p.Val667=
ENST00000406775.6:c.1929C>T	ENSP00000385263.2:p.Val643=
ENST00000439256.1:c.99C>T
ENST00000464768.1:n.667C>T
ENST00000465899.1:n.498C>T
ENST00000498384.5:n.369C>T
ENST00000611706.4:c.1257C>T	ENSP00000478134.1:p.Val419=
ENST00000615871.4:c.1185C>T	ENSP00000479325.1:p.Val395=
NM_001127231.2:c.1929C>T	NP_001120703.1:p.Val643=
NM_015570.3:c.2001C>T	NP_056385.1:p.Val667=
XM_005250257.1:c.648C>T	XP_005250314.1:p.Val216=
XM_011516010.1:c.2022C>T	XP_011514312.1:p.Val674=
XM_011516011.1:c.2019C>T	XP_011514313.1:p.Val673=
XM_011516012.1:c.1956C>T	XP_011514314.1:p.Val652=
XM_011516013.1:c.1950C>T	XP_011514315.1:p.Val650=
XM_011516014.1:c.1920C>T	XP_011514316.1:p.Val640=
XM_011516015.1:c.1758C>T	XP_011514317.1:p.Val586=
XM_011516016.1:c.1731C>T	XP_011514318.1:p.Val577=
XM_011516017.1:c.1548C>T	XP_011514319.1:p.Val516=
XM_011516018.1:c.1521C>T	XP_011514320.1:p.Val507=
XM_005250257.2:c.648C>T	XP_005250314.1:p.Val216=
XM_011516010.2:c.2022C>T	XP_011514312.1:p.Val674=
XM_011516011.2:c.2019C>T	XP_011514313.1:p.Val673=
XM_011516012.2:c.1956C>T	XP_011514314.1:p.Val652=
XM_011516013.2:c.1950C>T	XP_011514315.1:p.Val650=
XM_011516014.2:c.1920C>T	XP_011514316.1:p.Val640=
XM_011516017.2:c.1548C>T	XP_011514319.1:p.Val516=
XM_011516018.2:c.1521C>T	XP_011514320.1:p.Val507=
XM_017011951.2:c.2022C>T	XP_016867440.1:p.Val674=
NM_001127231.3:c.1929C>T	NP_001120703.1:p.Val643=
NM_015570.4:c.2001C>T MANE Select	NP_056385.1:p.Val667=