Canonical Allele Identifier: CA367669854

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242149C>T (hg19) ; chr7:g.70777163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777163C>T , CM000669.2:g.70777163C>T	GRCh38
NC_000007.13:g.70242149C>T , CM000669.1:g.70242149C>T	GRCh37
NC_000007.12:g.69880085C>T	NCBI36
NG_034133.1:g.1183245C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.61C>T	ENSP00000514784.1:p.Gln21Ter
ENST00000342771.10:c.1993C>T MANE Select	ENSP00000344087.4:p.Gln665Ter
ENST00000439256.2:c.91C>T	ENSP00000407058.2:p.Gln31Ter
ENST00000443672.2:c.328C>T	ENSP00000393548.2:p.Gln110Ter
ENST00000449547.6:c.86C>T
ENST00000464768.2:n.661C>T
ENST00000644359.1:c.574C>T	ENSP00000494561.1:p.Gln192Ter
ENST00000644506.1:c.619C>T	ENSP00000496672.1:p.Gln207Ter
ENST00000644939.1:c.1990C>T	ENSP00000496726.1:p.Gln664Ter
ENST00000646136.1:n.304C>T
ENST00000647140.1:c.858C>T
ENST00000342771.8:c.1993C>T	ENSP00000344087.4:p.Gln665Ter
ENST00000406775.6:c.1921C>T	ENSP00000385263.2:p.Gln641Ter
ENST00000439256.1:c.91C>T
ENST00000464768.1:n.659C>T
ENST00000465899.1:n.490C>T
ENST00000498384.5:n.361C>T
ENST00000611706.4:c.1249C>T	ENSP00000478134.1:p.Gln417Ter
ENST00000615871.4:c.1177C>T	ENSP00000479325.1:p.Gln393Ter
NM_001127231.2:c.1921C>T	NP_001120703.1:p.Gln641Ter
NM_015570.3:c.1993C>T	NP_056385.1:p.Gln665Ter
XM_005250257.1:c.640C>T	XP_005250314.1:p.Gln214Ter
XM_011516010.1:c.2014C>T	XP_011514312.1:p.Gln672Ter
XM_011516011.1:c.2011C>T	XP_011514313.1:p.Gln671Ter
XM_011516012.1:c.1948C>T	XP_011514314.1:p.Gln650Ter
XM_011516013.1:c.1942C>T	XP_011514315.1:p.Gln648Ter
XM_011516014.1:c.1912C>T	XP_011514316.1:p.Gln638Ter
XM_011516015.1:c.1750C>T	XP_011514317.1:p.Gln584Ter
XM_011516016.1:c.1723C>T	XP_011514318.1:p.Gln575Ter
XM_011516017.1:c.1540C>T	XP_011514319.1:p.Gln514Ter
XM_011516018.1:c.1513C>T	XP_011514320.1:p.Gln505Ter
XM_005250257.2:c.640C>T	XP_005250314.1:p.Gln214Ter
XM_011516010.2:c.2014C>T	XP_011514312.1:p.Gln672Ter
XM_011516011.2:c.2011C>T	XP_011514313.1:p.Gln671Ter
XM_011516012.2:c.1948C>T	XP_011514314.1:p.Gln650Ter
XM_011516013.2:c.1942C>T	XP_011514315.1:p.Gln648Ter
XM_011516014.2:c.1912C>T	XP_011514316.1:p.Gln638Ter
XM_011516017.2:c.1540C>T	XP_011514319.1:p.Gln514Ter
XM_011516018.2:c.1513C>T	XP_011514320.1:p.Gln505Ter
XM_017011951.2:c.2014C>T	XP_016867440.1:p.Gln672Ter
NM_001127231.3:c.1921C>T	NP_001120703.1:p.Gln641Ter
NM_015570.4:c.1993C>T MANE Select	NP_056385.1:p.Gln665Ter