Canonical Allele Identifier: CA367669633

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 1027646
• ClinVar RCV Id: RCV001328475
• dbSNP Id: rs1790618973
• MyVariant Identifiers: chr7:g.70240346A>G (hg19) ; chr7:g.70775360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70775360A>G , CM000669.2:g.70775360A>G	GRCh38
NC_000007.13:g.70240346A>G , CM000669.1:g.70240346A>G	GRCh37
NC_000007.12:g.69878282A>G	NCBI36
NG_034133.1:g.1181442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1906A>G MANE Select	ENSP00000344087.4:p.Thr636Ala
ENST00000439256.2:c.4A>G	ENSP00000407058.2:p.Thr2Ala
ENST00000443672.2:c.241A>G	ENSP00000393548.2:p.Thr81Ala
ENST00000464768.2:n.574A>G
ENST00000644359.1:c.487A>G	ENSP00000494561.1:p.Thr163Ala
ENST00000644506.1:c.532A>G	ENSP00000496672.1:p.Thr178Ala
ENST00000644939.1:c.1903A>G	ENSP00000496726.1:p.Thr635Ala
ENST00000644949.1:c.264-1743A>G
ENST00000646136.1:n.217A>G
ENST00000647140.1:c.771A>G
ENST00000342771.8:c.1906A>G	ENSP00000344087.4:p.Thr636Ala
ENST00000406775.6:c.1834A>G	ENSP00000385263.2:p.Thr612Ala
ENST00000439256.1:c.4A>G
ENST00000443672.1:c.486A>G
ENST00000464768.1:n.572A>G
ENST00000498384.5:n.274A>G
ENST00000611706.4:c.1162A>G	ENSP00000478134.1:p.Thr388Ala
ENST00000615871.4:c.1090A>G	ENSP00000479325.1:p.Thr364Ala
NM_001127231.2:c.1834A>G	NP_001120703.1:p.Thr612Ala
NM_015570.3:c.1906A>G	NP_056385.1:p.Thr636Ala
XM_005250257.1:c.553A>G	XP_005250314.1:p.Thr185Ala
XM_011516010.1:c.1927A>G	XP_011514312.1:p.Thr643Ala
XM_011516011.1:c.1924A>G	XP_011514313.1:p.Thr642Ala
XM_011516012.1:c.1861A>G	XP_011514314.1:p.Thr621Ala
XM_011516013.1:c.1855A>G	XP_011514315.1:p.Thr619Ala
XM_011516014.1:c.1852-1743A>G	XP_011514316.1:n.1852-1743A>G
XM_011516015.1:c.1690-1743A>G	XP_011514317.1:n.1690-1743A>G
XM_011516016.1:c.1636A>G	XP_011514318.1:p.Thr546Ala
XM_011516017.1:c.1453A>G	XP_011514319.1:p.Thr485Ala
XM_011516018.1:c.1426A>G	XP_011514320.1:p.Thr476Ala
XM_005250257.2:c.553A>G	XP_005250314.1:p.Thr185Ala
XM_011516010.2:c.1927A>G	XP_011514312.1:p.Thr643Ala
XM_011516011.2:c.1924A>G	XP_011514313.1:p.Thr642Ala
XM_011516012.2:c.1861A>G	XP_011514314.1:p.Thr621Ala
XM_011516013.2:c.1855A>G	XP_011514315.1:p.Thr619Ala
XM_011516014.2:c.1852-1743A>G	XP_011514316.1:n.1852-1743A>G
XM_011516017.2:c.1453A>G	XP_011514319.1:p.Thr485Ala
XM_011516018.2:c.1426A>G	XP_011514320.1:p.Thr476Ala
XM_017011951.2:c.1927A>G	XP_016867440.1:p.Thr643Ala
NM_001127231.3:c.1834A>G	NP_001120703.1:p.Thr612Ala
NM_015570.4:c.1906A>G MANE Select	NP_056385.1:p.Thr636Ala