Canonical Allele Identifier: CA367669783

Gene: AUTS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.32A>C	ENSP00000514784.1:p.His11Pro
ENST00000342771.10:c.1964A>C MANE Select	ENSP00000344087.4:p.His655Pro
ENST00000439256.2:c.62A>C	ENSP00000407058.2:p.His21Pro
ENST00000443672.2:c.299A>C	ENSP00000393548.2:p.His100Pro
ENST00000449547.6:c.57A>C
ENST00000464768.2:n.632A>C
ENST00000644359.1:c.545A>C	ENSP00000494561.1:p.His182Pro
ENST00000644506.1:c.590A>C	ENSP00000496672.1:p.His197Pro
ENST00000644939.1:c.1961A>C	ENSP00000496726.1:p.His654Pro
ENST00000644949.1:c.295A>C
ENST00000646136.1:n.275A>C
ENST00000647140.1:c.829A>C
ENST00000342771.8:c.1964A>C	ENSP00000344087.4:p.His655Pro
ENST00000406775.6:c.1892A>C	ENSP00000385263.2:p.His631Pro
ENST00000439256.1:c.62A>C
ENST00000464768.1:n.630A>C
ENST00000465899.1:n.461A>C
ENST00000498384.5:n.332A>C
ENST00000611706.4:c.1220A>C	ENSP00000478134.1:p.His407Pro
ENST00000615871.4:c.1148A>C	ENSP00000479325.1:p.His383Pro
NM_001127231.2:c.1892A>C	NP_001120703.1:p.His631Pro
NM_015570.3:c.1964A>C	NP_056385.1:p.His655Pro
XM_005250257.1:c.611A>C	XP_005250314.1:p.His204Pro
XM_011516010.1:c.1985A>C	XP_011514312.1:p.His662Pro
XM_011516011.1:c.1982A>C	XP_011514313.1:p.His661Pro
XM_011516012.1:c.1919A>C	XP_011514314.1:p.His640Pro
XM_011516013.1:c.1913A>C	XP_011514315.1:p.His638Pro
XM_011516014.1:c.1883A>C	XP_011514316.1:p.His628Pro
XM_011516015.1:c.1721A>C	XP_011514317.1:p.His574Pro
XM_011516016.1:c.1694A>C	XP_011514318.1:p.His565Pro
XM_011516017.1:c.1511A>C	XP_011514319.1:p.His504Pro
XM_011516018.1:c.1484A>C	XP_011514320.1:p.His495Pro
XM_005250257.2:c.611A>C	XP_005250314.1:p.His204Pro
XM_011516010.2:c.1985A>C	XP_011514312.1:p.His662Pro
XM_011516011.2:c.1982A>C	XP_011514313.1:p.His661Pro
XM_011516012.2:c.1919A>C	XP_011514314.1:p.His640Pro
XM_011516013.2:c.1913A>C	XP_011514315.1:p.His638Pro
XM_011516014.2:c.1883A>C	XP_011514316.1:p.His628Pro
XM_011516017.2:c.1511A>C	XP_011514319.1:p.His504Pro
XM_011516018.2:c.1484A>C	XP_011514320.1:p.His495Pro
XM_017011951.2:c.1985A>C	XP_016867440.1:p.His662Pro
NM_001127231.3:c.1892A>C	NP_001120703.1:p.His631Pro
NM_015570.4:c.1964A>C MANE Select	NP_056385.1:p.His655Pro