Canonical Allele Identifier: CA367669768

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242113C>T (hg19) ; chr7:g.70777127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777127C>T , CM000669.2:g.70777127C>T	GRCh38
NC_000007.13:g.70242113C>T , CM000669.1:g.70242113C>T	GRCh37
NC_000007.12:g.69880049C>T	NCBI36
NG_034133.1:g.1183209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.25C>T	ENSP00000514784.1:p.His9Tyr
ENST00000342771.10:c.1957C>T MANE Select	ENSP00000344087.4:p.His653Tyr
ENST00000439256.2:c.55C>T	ENSP00000407058.2:p.His19Tyr
ENST00000443672.2:c.292C>T	ENSP00000393548.2:p.His98Tyr
ENST00000449547.6:c.50C>T
ENST00000464768.2:n.625C>T
ENST00000644359.1:c.538C>T	ENSP00000494561.1:p.His180Tyr
ENST00000644506.1:c.583C>T	ENSP00000496672.1:p.His195Tyr
ENST00000644939.1:c.1954C>T	ENSP00000496726.1:p.His652Tyr
ENST00000644949.1:c.288C>T
ENST00000646136.1:n.268C>T
ENST00000647140.1:c.822C>T
ENST00000342771.8:c.1957C>T	ENSP00000344087.4:p.His653Tyr
ENST00000406775.6:c.1885C>T	ENSP00000385263.2:p.His629Tyr
ENST00000439256.1:c.55C>T
ENST00000443672.1:c.537C>T
ENST00000464768.1:n.623C>T
ENST00000465899.1:n.454C>T
ENST00000498384.5:n.325C>T
ENST00000611706.4:c.1213C>T	ENSP00000478134.1:p.His405Tyr
ENST00000615871.4:c.1141C>T	ENSP00000479325.1:p.His381Tyr
NM_001127231.2:c.1885C>T	NP_001120703.1:p.His629Tyr
NM_015570.3:c.1957C>T	NP_056385.1:p.His653Tyr
XM_005250257.1:c.604C>T	XP_005250314.1:p.His202Tyr
XM_011516010.1:c.1978C>T	XP_011514312.1:p.His660Tyr
XM_011516011.1:c.1975C>T	XP_011514313.1:p.His659Tyr
XM_011516012.1:c.1912C>T	XP_011514314.1:p.His638Tyr
XM_011516013.1:c.1906C>T	XP_011514315.1:p.His636Tyr
XM_011516014.1:c.1876C>T	XP_011514316.1:p.His626Tyr
XM_011516015.1:c.1714C>T	XP_011514317.1:p.His572Tyr
XM_011516016.1:c.1687C>T	XP_011514318.1:p.His563Tyr
XM_011516017.1:c.1504C>T	XP_011514319.1:p.His502Tyr
XM_011516018.1:c.1477C>T	XP_011514320.1:p.His493Tyr
XM_005250257.2:c.604C>T	XP_005250314.1:p.His202Tyr
XM_011516010.2:c.1978C>T	XP_011514312.1:p.His660Tyr
XM_011516011.2:c.1975C>T	XP_011514313.1:p.His659Tyr
XM_011516012.2:c.1912C>T	XP_011514314.1:p.His638Tyr
XM_011516013.2:c.1906C>T	XP_011514315.1:p.His636Tyr
XM_011516014.2:c.1876C>T	XP_011514316.1:p.His626Tyr
XM_011516017.2:c.1504C>T	XP_011514319.1:p.His502Tyr
XM_011516018.2:c.1477C>T	XP_011514320.1:p.His493Tyr
XM_017011951.2:c.1978C>T	XP_016867440.1:p.His660Tyr
NM_001127231.3:c.1885C>T	NP_001120703.1:p.His629Tyr
NM_015570.4:c.1957C>T MANE Select	NP_056385.1:p.His653Tyr