Canonical Allele Identifier: CA367667472

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70228031A>G (hg19) ; chr7:g.70763045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70763045A>G , CM000669.2:g.70763045A>G	GRCh38
NC_000007.13:g.70228031A>G , CM000669.1:g.70228031A>G	GRCh37
NC_000007.12:g.69865967A>G	NCBI36
NG_034133.1:g.1169127A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.918A>G MANE Select	ENSP00000344087.4:p.Ile306Met
ENST00000443672.2:c.-197-3069A>G	ENSP00000393548.2:n.-197-3069A>G
ENST00000644359.1:c.-454A>G	ENSP00000494561.1:n.-454A>G
ENST00000644506.1:c.-454A>G	ENSP00000496672.1:n.-454A>G
ENST00000644939.1:c.918A>G	ENSP00000496726.1:p.Ile306Met
ENST00000656200.1:c.-457A>G	ENSP00000499508.1:n.-457A>G
ENST00000342771.8:c.918A>G	ENSP00000344087.4:p.Ile306Met
ENST00000406775.6:c.918A>G	ENSP00000385263.2:p.Ile306Met
ENST00000416482.1:c.259A>G
ENST00000611706.4:c.174A>G	ENSP00000478134.1:p.Ile58Met
ENST00000615871.4:c.174A>G	ENSP00000479325.1:p.Ile58Met
NM_001127231.2:c.918A>G	NP_001120703.1:p.Ile306Met
NM_015570.3:c.918A>G	NP_056385.1:p.Ile306Met
XM_011516010.1:c.918A>G	XP_011514312.1:p.Ile306Met
XM_011516011.1:c.918A>G	XP_011514313.1:p.Ile306Met
XM_011516012.1:c.918A>G	XP_011514314.1:p.Ile306Met
XM_011516013.1:c.918A>G	XP_011514315.1:p.Ile306Met
XM_011516014.1:c.918A>G	XP_011514316.1:p.Ile306Met
XM_011516015.1:c.918A>G	XP_011514317.1:p.Ile306Met
XM_011516016.1:c.627A>G	XP_011514318.1:p.Ile209Met
XM_011516017.1:c.444A>G	XP_011514319.1:p.Ile148Met
XM_011516018.1:c.417A>G	XP_011514320.1:p.Ile139Met
XM_011516010.2:c.918A>G	XP_011514312.1:p.Ile306Met
XM_011516011.2:c.918A>G	XP_011514313.1:p.Ile306Met
XM_011516012.2:c.918A>G	XP_011514314.1:p.Ile306Met
XM_011516013.2:c.918A>G	XP_011514315.1:p.Ile306Met
XM_011516014.2:c.918A>G	XP_011514316.1:p.Ile306Met
XM_011516017.2:c.444A>G	XP_011514319.1:p.Ile148Met
XM_011516018.2:c.417A>G	XP_011514320.1:p.Ile139Met
XM_017011951.2:c.918A>G	XP_016867440.1:p.Ile306Met
NM_001127231.3:c.918A>G	NP_001120703.1:p.Ile306Met
NM_015570.4:c.918A>G MANE Select	NP_056385.1:p.Ile306Met