Canonical Allele Identifier: CA367669785

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242120A>T (hg19) ; chr7:g.70777134A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777134A>T , CM000669.2:g.70777134A>T	GRCh38
NC_000007.13:g.70242120A>T , CM000669.1:g.70242120A>T	GRCh37
NC_000007.12:g.69880056A>T	NCBI36
NG_034133.1:g.1183216A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.32A>T	ENSP00000514784.1:p.His11Leu
ENST00000342771.10:c.1964A>T MANE Select	ENSP00000344087.4:p.His655Leu
ENST00000439256.2:c.62A>T	ENSP00000407058.2:p.His21Leu
ENST00000443672.2:c.299A>T	ENSP00000393548.2:p.His100Leu
ENST00000449547.6:c.57A>T
ENST00000464768.2:n.632A>T
ENST00000644359.1:c.545A>T	ENSP00000494561.1:p.His182Leu
ENST00000644506.1:c.590A>T	ENSP00000496672.1:p.His197Leu
ENST00000644939.1:c.1961A>T	ENSP00000496726.1:p.His654Leu
ENST00000644949.1:c.295A>T
ENST00000646136.1:n.275A>T
ENST00000647140.1:c.829A>T
ENST00000342771.8:c.1964A>T	ENSP00000344087.4:p.His655Leu
ENST00000406775.6:c.1892A>T	ENSP00000385263.2:p.His631Leu
ENST00000439256.1:c.62A>T
ENST00000464768.1:n.630A>T
ENST00000465899.1:n.461A>T
ENST00000498384.5:n.332A>T
ENST00000611706.4:c.1220A>T	ENSP00000478134.1:p.His407Leu
ENST00000615871.4:c.1148A>T	ENSP00000479325.1:p.His383Leu
NM_001127231.2:c.1892A>T	NP_001120703.1:p.His631Leu
NM_015570.3:c.1964A>T	NP_056385.1:p.His655Leu
XM_005250257.1:c.611A>T	XP_005250314.1:p.His204Leu
XM_011516010.1:c.1985A>T	XP_011514312.1:p.His662Leu
XM_011516011.1:c.1982A>T	XP_011514313.1:p.His661Leu
XM_011516012.1:c.1919A>T	XP_011514314.1:p.His640Leu
XM_011516013.1:c.1913A>T	XP_011514315.1:p.His638Leu
XM_011516014.1:c.1883A>T	XP_011514316.1:p.His628Leu
XM_011516015.1:c.1721A>T	XP_011514317.1:p.His574Leu
XM_011516016.1:c.1694A>T	XP_011514318.1:p.His565Leu
XM_011516017.1:c.1511A>T	XP_011514319.1:p.His504Leu
XM_011516018.1:c.1484A>T	XP_011514320.1:p.His495Leu
XM_005250257.2:c.611A>T	XP_005250314.1:p.His204Leu
XM_011516010.2:c.1985A>T	XP_011514312.1:p.His662Leu
XM_011516011.2:c.1982A>T	XP_011514313.1:p.His661Leu
XM_011516012.2:c.1919A>T	XP_011514314.1:p.His640Leu
XM_011516013.2:c.1913A>T	XP_011514315.1:p.His638Leu
XM_011516014.2:c.1883A>T	XP_011514316.1:p.His628Leu
XM_011516017.2:c.1511A>T	XP_011514319.1:p.His504Leu
XM_011516018.2:c.1484A>T	XP_011514320.1:p.His495Leu
XM_017011951.2:c.1985A>T	XP_016867440.1:p.His662Leu
NM_001127231.3:c.1892A>T	NP_001120703.1:p.His631Leu
NM_015570.4:c.1964A>T MANE Select	NP_056385.1:p.His655Leu