Canonical Allele Identifier: CA367669824

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242137T>C (hg19) ; chr7:g.70777151T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777151T>C , CM000669.2:g.70777151T>C	GRCh38
NC_000007.13:g.70242137T>C , CM000669.1:g.70242137T>C	GRCh37
NC_000007.12:g.69880073T>C	NCBI36
NG_034133.1:g.1183233T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.49T>C	ENSP00000514784.1:p.Tyr17His
ENST00000342771.10:c.1981T>C MANE Select	ENSP00000344087.4:p.Tyr661His
ENST00000439256.2:c.79T>C	ENSP00000407058.2:p.Tyr27His
ENST00000443672.2:c.316T>C	ENSP00000393548.2:p.Tyr106His
ENST00000449547.6:c.74T>C
ENST00000464768.2:n.649T>C
ENST00000644359.1:c.562T>C	ENSP00000494561.1:p.Tyr188His
ENST00000644506.1:c.607T>C	ENSP00000496672.1:p.Tyr203His
ENST00000644939.1:c.1978T>C	ENSP00000496726.1:p.Tyr660His
ENST00000646136.1:n.292T>C
ENST00000647140.1:c.846T>C
ENST00000342771.8:c.1981T>C	ENSP00000344087.4:p.Tyr661His
ENST00000406775.6:c.1909T>C	ENSP00000385263.2:p.Tyr637His
ENST00000439256.1:c.79T>C
ENST00000464768.1:n.647T>C
ENST00000465899.1:n.478T>C
ENST00000498384.5:n.349T>C
ENST00000611706.4:c.1237T>C	ENSP00000478134.1:p.Tyr413His
ENST00000615871.4:c.1165T>C	ENSP00000479325.1:p.Tyr389His
NM_001127231.2:c.1909T>C	NP_001120703.1:p.Tyr637His
NM_015570.3:c.1981T>C	NP_056385.1:p.Tyr661His
XM_005250257.1:c.628T>C	XP_005250314.1:p.Tyr210His
XM_011516010.1:c.2002T>C	XP_011514312.1:p.Tyr668His
XM_011516011.1:c.1999T>C	XP_011514313.1:p.Tyr667His
XM_011516012.1:c.1936T>C	XP_011514314.1:p.Tyr646His
XM_011516013.1:c.1930T>C	XP_011514315.1:p.Tyr644His
XM_011516014.1:c.1900T>C	XP_011514316.1:p.Tyr634His
XM_011516015.1:c.1738T>C	XP_011514317.1:p.Tyr580His
XM_011516016.1:c.1711T>C	XP_011514318.1:p.Tyr571His
XM_011516017.1:c.1528T>C	XP_011514319.1:p.Tyr510His
XM_011516018.1:c.1501T>C	XP_011514320.1:p.Tyr501His
XM_005250257.2:c.628T>C	XP_005250314.1:p.Tyr210His
XM_011516010.2:c.2002T>C	XP_011514312.1:p.Tyr668His
XM_011516011.2:c.1999T>C	XP_011514313.1:p.Tyr667His
XM_011516012.2:c.1936T>C	XP_011514314.1:p.Tyr646His
XM_011516013.2:c.1930T>C	XP_011514315.1:p.Tyr644His
XM_011516014.2:c.1900T>C	XP_011514316.1:p.Tyr634His
XM_011516017.2:c.1528T>C	XP_011514319.1:p.Tyr510His
XM_011516018.2:c.1501T>C	XP_011514320.1:p.Tyr501His
XM_017011951.2:c.2002T>C	XP_016867440.1:p.Tyr668His
NM_001127231.3:c.1909T>C	NP_001120703.1:p.Tyr637His
NM_015570.4:c.1981T>C MANE Select	NP_056385.1:p.Tyr661His