Canonical Allele Identifier: CA367669817

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242134A>T (hg19) ; chr7:g.70777148A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777148A>T , CM000669.2:g.70777148A>T	GRCh38
NC_000007.13:g.70242134A>T , CM000669.1:g.70242134A>T	GRCh37
NC_000007.12:g.69880070A>T	NCBI36
NG_034133.1:g.1183230A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.46A>T	ENSP00000514784.1:p.Ile16Phe
ENST00000342771.10:c.1978A>T MANE Select	ENSP00000344087.4:p.Ile660Phe
ENST00000439256.2:c.76A>T	ENSP00000407058.2:p.Ile26Phe
ENST00000443672.2:c.313A>T	ENSP00000393548.2:p.Ile105Phe
ENST00000449547.6:c.71A>T
ENST00000464768.2:n.646A>T
ENST00000644359.1:c.559A>T	ENSP00000494561.1:p.Ile187Phe
ENST00000644506.1:c.604A>T	ENSP00000496672.1:p.Ile202Phe
ENST00000644939.1:c.1975A>T	ENSP00000496726.1:p.Ile659Phe
ENST00000646136.1:n.289A>T
ENST00000647140.1:c.843A>T
ENST00000342771.8:c.1978A>T	ENSP00000344087.4:p.Ile660Phe
ENST00000406775.6:c.1906A>T	ENSP00000385263.2:p.Ile636Phe
ENST00000439256.1:c.76A>T
ENST00000464768.1:n.644A>T
ENST00000465899.1:n.475A>T
ENST00000498384.5:n.346A>T
ENST00000611706.4:c.1234A>T	ENSP00000478134.1:p.Ile412Phe
ENST00000615871.4:c.1162A>T	ENSP00000479325.1:p.Ile388Phe
NM_001127231.2:c.1906A>T	NP_001120703.1:p.Ile636Phe
NM_015570.3:c.1978A>T	NP_056385.1:p.Ile660Phe
XM_005250257.1:c.625A>T	XP_005250314.1:p.Ile209Phe
XM_011516010.1:c.1999A>T	XP_011514312.1:p.Ile667Phe
XM_011516011.1:c.1996A>T	XP_011514313.1:p.Ile666Phe
XM_011516012.1:c.1933A>T	XP_011514314.1:p.Ile645Phe
XM_011516013.1:c.1927A>T	XP_011514315.1:p.Ile643Phe
XM_011516014.1:c.1897A>T	XP_011514316.1:p.Ile633Phe
XM_011516015.1:c.1735A>T	XP_011514317.1:p.Ile579Phe
XM_011516016.1:c.1708A>T	XP_011514318.1:p.Ile570Phe
XM_011516017.1:c.1525A>T	XP_011514319.1:p.Ile509Phe
XM_011516018.1:c.1498A>T	XP_011514320.1:p.Ile500Phe
XM_005250257.2:c.625A>T	XP_005250314.1:p.Ile209Phe
XM_011516010.2:c.1999A>T	XP_011514312.1:p.Ile667Phe
XM_011516011.2:c.1996A>T	XP_011514313.1:p.Ile666Phe
XM_011516012.2:c.1933A>T	XP_011514314.1:p.Ile645Phe
XM_011516013.2:c.1927A>T	XP_011514315.1:p.Ile643Phe
XM_011516014.2:c.1897A>T	XP_011514316.1:p.Ile633Phe
XM_011516017.2:c.1525A>T	XP_011514319.1:p.Ile509Phe
XM_011516018.2:c.1498A>T	XP_011514320.1:p.Ile500Phe
XM_017011951.2:c.1999A>T	XP_016867440.1:p.Ile667Phe
NM_001127231.3:c.1906A>T	NP_001120703.1:p.Ile636Phe
NM_015570.4:c.1978A>T MANE Select	NP_056385.1:p.Ile660Phe