Canonical Allele Identifier: CA367669718

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242093C>T (hg19) ; chr7:g.70777107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777107C>T , CM000669.2:g.70777107C>T	GRCh38
NC_000007.13:g.70242093C>T , CM000669.1:g.70242093C>T	GRCh37
NC_000007.12:g.69880029C>T	NCBI36
NG_034133.1:g.1183189C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.5C>T	ENSP00000514784.1:p.Pro2Leu
ENST00000342771.10:c.1937C>T MANE Select	ENSP00000344087.4:p.Pro646Leu
ENST00000439256.2:c.35C>T	ENSP00000407058.2:p.Pro12Leu
ENST00000443672.2:c.272C>T	ENSP00000393548.2:p.Pro91Leu
ENST00000449547.6:c.30C>T
ENST00000464768.2:n.605C>T
ENST00000644359.1:c.518C>T	ENSP00000494561.1:p.Pro173Leu
ENST00000644506.1:c.563C>T	ENSP00000496672.1:p.Pro188Leu
ENST00000644939.1:c.1934C>T	ENSP00000496726.1:p.Pro645Leu
ENST00000644949.1:c.268C>T
ENST00000646136.1:n.248C>T
ENST00000647140.1:c.802C>T
ENST00000342771.8:c.1937C>T	ENSP00000344087.4:p.Pro646Leu
ENST00000406775.6:c.1865C>T	ENSP00000385263.2:p.Pro622Leu
ENST00000439256.1:c.35C>T
ENST00000443672.1:c.517C>T
ENST00000464768.1:n.603C>T
ENST00000465899.1:n.434C>T
ENST00000498384.5:n.305C>T
ENST00000611706.4:c.1193C>T	ENSP00000478134.1:p.Pro398Leu
ENST00000615871.4:c.1121C>T	ENSP00000479325.1:p.Pro374Leu
NM_001127231.2:c.1865C>T	NP_001120703.1:p.Pro622Leu
NM_015570.3:c.1937C>T	NP_056385.1:p.Pro646Leu
XM_005250257.1:c.584C>T	XP_005250314.1:p.Pro195Leu
XM_011516010.1:c.1958C>T	XP_011514312.1:p.Pro653Leu
XM_011516011.1:c.1955C>T	XP_011514313.1:p.Pro652Leu
XM_011516012.1:c.1892C>T	XP_011514314.1:p.Pro631Leu
XM_011516013.1:c.1886C>T	XP_011514315.1:p.Pro629Leu
XM_011516014.1:c.1856C>T	XP_011514316.1:p.Pro619Leu
XM_011516015.1:c.1694C>T	XP_011514317.1:p.Pro565Leu
XM_011516016.1:c.1667C>T	XP_011514318.1:p.Pro556Leu
XM_011516017.1:c.1484C>T	XP_011514319.1:p.Pro495Leu
XM_011516018.1:c.1457C>T	XP_011514320.1:p.Pro486Leu
XM_005250257.2:c.584C>T	XP_005250314.1:p.Pro195Leu
XM_011516010.2:c.1958C>T	XP_011514312.1:p.Pro653Leu
XM_011516011.2:c.1955C>T	XP_011514313.1:p.Pro652Leu
XM_011516012.2:c.1892C>T	XP_011514314.1:p.Pro631Leu
XM_011516013.2:c.1886C>T	XP_011514315.1:p.Pro629Leu
XM_011516014.2:c.1856C>T	XP_011514316.1:p.Pro619Leu
XM_011516017.2:c.1484C>T	XP_011514319.1:p.Pro495Leu
XM_011516018.2:c.1457C>T	XP_011514320.1:p.Pro486Leu
XM_017011951.2:c.1958C>T	XP_016867440.1:p.Pro653Leu
NM_001127231.3:c.1865C>T	NP_001120703.1:p.Pro622Leu
NM_015570.4:c.1937C>T MANE Select	NP_056385.1:p.Pro646Leu