Canonical Allele Identifier: CA367669815

Gene: AUTS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.46A>C	ENSP00000514784.1:p.Ile16Leu
ENST00000342771.10:c.1978A>C MANE Select	ENSP00000344087.4:p.Ile660Leu
ENST00000439256.2:c.76A>C	ENSP00000407058.2:p.Ile26Leu
ENST00000443672.2:c.313A>C	ENSP00000393548.2:p.Ile105Leu
ENST00000449547.6:c.71A>C
ENST00000464768.2:n.646A>C
ENST00000644359.1:c.559A>C	ENSP00000494561.1:p.Ile187Leu
ENST00000644506.1:c.604A>C	ENSP00000496672.1:p.Ile202Leu
ENST00000644939.1:c.1975A>C	ENSP00000496726.1:p.Ile659Leu
ENST00000646136.1:n.289A>C
ENST00000647140.1:c.843A>C
ENST00000342771.8:c.1978A>C	ENSP00000344087.4:p.Ile660Leu
ENST00000406775.6:c.1906A>C	ENSP00000385263.2:p.Ile636Leu
ENST00000439256.1:c.76A>C
ENST00000464768.1:n.644A>C
ENST00000465899.1:n.475A>C
ENST00000498384.5:n.346A>C
ENST00000611706.4:c.1234A>C	ENSP00000478134.1:p.Ile412Leu
ENST00000615871.4:c.1162A>C	ENSP00000479325.1:p.Ile388Leu
NM_001127231.2:c.1906A>C	NP_001120703.1:p.Ile636Leu
NM_015570.3:c.1978A>C	NP_056385.1:p.Ile660Leu
XM_005250257.1:c.625A>C	XP_005250314.1:p.Ile209Leu
XM_011516010.1:c.1999A>C	XP_011514312.1:p.Ile667Leu
XM_011516011.1:c.1996A>C	XP_011514313.1:p.Ile666Leu
XM_011516012.1:c.1933A>C	XP_011514314.1:p.Ile645Leu
XM_011516013.1:c.1927A>C	XP_011514315.1:p.Ile643Leu
XM_011516014.1:c.1897A>C	XP_011514316.1:p.Ile633Leu
XM_011516015.1:c.1735A>C	XP_011514317.1:p.Ile579Leu
XM_011516016.1:c.1708A>C	XP_011514318.1:p.Ile570Leu
XM_011516017.1:c.1525A>C	XP_011514319.1:p.Ile509Leu
XM_011516018.1:c.1498A>C	XP_011514320.1:p.Ile500Leu
XM_005250257.2:c.625A>C	XP_005250314.1:p.Ile209Leu
XM_011516010.2:c.1999A>C	XP_011514312.1:p.Ile667Leu
XM_011516011.2:c.1996A>C	XP_011514313.1:p.Ile666Leu
XM_011516012.2:c.1933A>C	XP_011514314.1:p.Ile645Leu
XM_011516013.2:c.1927A>C	XP_011514315.1:p.Ile643Leu
XM_011516014.2:c.1897A>C	XP_011514316.1:p.Ile633Leu
XM_011516017.2:c.1525A>C	XP_011514319.1:p.Ile509Leu
XM_011516018.2:c.1498A>C	XP_011514320.1:p.Ile500Leu
XM_017011951.2:c.1999A>C	XP_016867440.1:p.Ile667Leu
NM_001127231.3:c.1906A>C	NP_001120703.1:p.Ile636Leu
NM_015570.4:c.1978A>C MANE Select	NP_056385.1:p.Ile660Leu