Canonical Allele Identifier: CA367669809

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242131C>T (hg19) ; chr7:g.70777145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777145C>T , CM000669.2:g.70777145C>T	GRCh38
NC_000007.13:g.70242131C>T , CM000669.1:g.70242131C>T	GRCh37
NC_000007.12:g.69880067C>T	NCBI36
NG_034133.1:g.1183227C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.43C>T	ENSP00000514784.1:p.Gln15Ter
ENST00000342771.10:c.1975C>T MANE Select	ENSP00000344087.4:p.Gln659Ter
ENST00000439256.2:c.73C>T	ENSP00000407058.2:p.Gln25Ter
ENST00000443672.2:c.310C>T	ENSP00000393548.2:p.Gln104Ter
ENST00000449547.6:c.68C>T
ENST00000464768.2:n.643C>T
ENST00000644359.1:c.556C>T	ENSP00000494561.1:p.Gln186Ter
ENST00000644506.1:c.601C>T	ENSP00000496672.1:p.Gln201Ter
ENST00000644939.1:c.1972C>T	ENSP00000496726.1:p.Gln658Ter
ENST00000646136.1:n.286C>T
ENST00000647140.1:c.840C>T
ENST00000342771.8:c.1975C>T	ENSP00000344087.4:p.Gln659Ter
ENST00000406775.6:c.1903C>T	ENSP00000385263.2:p.Gln635Ter
ENST00000439256.1:c.73C>T
ENST00000464768.1:n.641C>T
ENST00000465899.1:n.472C>T
ENST00000498384.5:n.343C>T
ENST00000611706.4:c.1231C>T	ENSP00000478134.1:p.Gln411Ter
ENST00000615871.4:c.1159C>T	ENSP00000479325.1:p.Gln387Ter
NM_001127231.2:c.1903C>T	NP_001120703.1:p.Gln635Ter
NM_015570.3:c.1975C>T	NP_056385.1:p.Gln659Ter
XM_005250257.1:c.622C>T	XP_005250314.1:p.Gln208Ter
XM_011516010.1:c.1996C>T	XP_011514312.1:p.Gln666Ter
XM_011516011.1:c.1993C>T	XP_011514313.1:p.Gln665Ter
XM_011516012.1:c.1930C>T	XP_011514314.1:p.Gln644Ter
XM_011516013.1:c.1924C>T	XP_011514315.1:p.Gln642Ter
XM_011516014.1:c.1894C>T	XP_011514316.1:p.Gln632Ter
XM_011516015.1:c.1732C>T	XP_011514317.1:p.Gln578Ter
XM_011516016.1:c.1705C>T	XP_011514318.1:p.Gln569Ter
XM_011516017.1:c.1522C>T	XP_011514319.1:p.Gln508Ter
XM_011516018.1:c.1495C>T	XP_011514320.1:p.Gln499Ter
XM_005250257.2:c.622C>T	XP_005250314.1:p.Gln208Ter
XM_011516010.2:c.1996C>T	XP_011514312.1:p.Gln666Ter
XM_011516011.2:c.1993C>T	XP_011514313.1:p.Gln665Ter
XM_011516012.2:c.1930C>T	XP_011514314.1:p.Gln644Ter
XM_011516013.2:c.1924C>T	XP_011514315.1:p.Gln642Ter
XM_011516014.2:c.1894C>T	XP_011514316.1:p.Gln632Ter
XM_011516017.2:c.1522C>T	XP_011514319.1:p.Gln508Ter
XM_011516018.2:c.1495C>T	XP_011514320.1:p.Gln499Ter
XM_017011951.2:c.1996C>T	XP_016867440.1:p.Gln666Ter
NM_001127231.3:c.1903C>T	NP_001120703.1:p.Gln635Ter
NM_015570.4:c.1975C>T MANE Select	NP_056385.1:p.Gln659Ter