Canonical Allele Identifier: CA367669740

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242102G>T (hg19) ; chr7:g.70777116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777116G>T , CM000669.2:g.70777116G>T	GRCh38
NC_000007.13:g.70242102G>T , CM000669.1:g.70242102G>T	GRCh37
NC_000007.12:g.69880038G>T	NCBI36
NG_034133.1:g.1183198G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.14G>T	ENSP00000514784.1:p.Trp5Leu
ENST00000342771.10:c.1946G>T MANE Select	ENSP00000344087.4:p.Trp649Leu
ENST00000439256.2:c.44G>T	ENSP00000407058.2:p.Trp15Leu
ENST00000443672.2:c.281G>T	ENSP00000393548.2:p.Trp94Leu
ENST00000449547.6:c.39G>T
ENST00000464768.2:n.614G>T
ENST00000644359.1:c.527G>T	ENSP00000494561.1:p.Trp176Leu
ENST00000644506.1:c.572G>T	ENSP00000496672.1:p.Trp191Leu
ENST00000644939.1:c.1943G>T	ENSP00000496726.1:p.Trp648Leu
ENST00000644949.1:c.277G>T
ENST00000646136.1:n.257G>T
ENST00000647140.1:c.811G>T
ENST00000342771.8:c.1946G>T	ENSP00000344087.4:p.Trp649Leu
ENST00000406775.6:c.1874G>T	ENSP00000385263.2:p.Trp625Leu
ENST00000439256.1:c.44G>T
ENST00000443672.1:c.526G>T
ENST00000464768.1:n.612G>T
ENST00000465899.1:n.443G>T
ENST00000498384.5:n.314G>T
ENST00000611706.4:c.1202G>T	ENSP00000478134.1:p.Trp401Leu
ENST00000615871.4:c.1130G>T	ENSP00000479325.1:p.Trp377Leu
NM_001127231.2:c.1874G>T	NP_001120703.1:p.Trp625Leu
NM_015570.3:c.1946G>T	NP_056385.1:p.Trp649Leu
XM_005250257.1:c.593G>T	XP_005250314.1:p.Trp198Leu
XM_011516010.1:c.1967G>T	XP_011514312.1:p.Trp656Leu
XM_011516011.1:c.1964G>T	XP_011514313.1:p.Trp655Leu
XM_011516012.1:c.1901G>T	XP_011514314.1:p.Trp634Leu
XM_011516013.1:c.1895G>T	XP_011514315.1:p.Trp632Leu
XM_011516014.1:c.1865G>T	XP_011514316.1:p.Trp622Leu
XM_011516015.1:c.1703G>T	XP_011514317.1:p.Trp568Leu
XM_011516016.1:c.1676G>T	XP_011514318.1:p.Trp559Leu
XM_011516017.1:c.1493G>T	XP_011514319.1:p.Trp498Leu
XM_011516018.1:c.1466G>T	XP_011514320.1:p.Trp489Leu
XM_005250257.2:c.593G>T	XP_005250314.1:p.Trp198Leu
XM_011516010.2:c.1967G>T	XP_011514312.1:p.Trp656Leu
XM_011516011.2:c.1964G>T	XP_011514313.1:p.Trp655Leu
XM_011516012.2:c.1901G>T	XP_011514314.1:p.Trp634Leu
XM_011516013.2:c.1895G>T	XP_011514315.1:p.Trp632Leu
XM_011516014.2:c.1865G>T	XP_011514316.1:p.Trp622Leu
XM_011516017.2:c.1493G>T	XP_011514319.1:p.Trp498Leu
XM_011516018.2:c.1466G>T	XP_011514320.1:p.Trp489Leu
XM_017011951.2:c.1967G>T	XP_016867440.1:p.Trp656Leu
NM_001127231.3:c.1874G>T	NP_001120703.1:p.Trp625Leu
NM_015570.4:c.1946G>T MANE Select	NP_056385.1:p.Trp649Leu