Canonical Allele Identifier: CA367667046

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70698621G>A , CM000669.2:g.70698621G>A	GRCh38
NC_000007.13:g.70163607G>A , CM000669.1:g.70163607G>A	GRCh37
NC_000007.12:g.69801543G>A	NCBI36
NG_034133.1:g.1104703G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015570.4:c.742+1G>A MANE Select	NP_056385.1:n.742+1G>A
ENST00000342771.10:c.742+1G>A MANE Select	ENSP00000344087.4:n.742+1G>A
NM_001127231.2:c.742+1G>A	NP_001120703.1:n.742+1G>A
NM_001127231.3:c.742+1G>A	NP_001120703.1:n.742+1G>A
NM_015570.3:c.742+1G>A	NP_056385.1:n.742+1G>A
ENST00000342771.8:c.742+1G>A	ENSP00000344087.4:n.742+1G>A
ENST00000406775.6:c.742+1G>A	ENSP00000385263.2:n.742+1G>A
ENST00000443672.2:c.-198+1G>A	ENSP00000393548.2:n.-198+1G>A
ENST00000489774.1:n.226G>A
ENST00000611706.4:c.-3+1G>A	ENSP00000478134.1:n.-3+1G>A
ENST00000615871.4:c.-3+1G>A	ENSP00000479325.1:n.-3+1G>A
ENST00000644359.1:c.-630+1G>A	ENSP00000494561.1:n.-630+1G>A
ENST00000644506.1:c.-630+1G>A	ENSP00000496672.1:n.-630+1G>A
ENST00000644939.1:c.742+1G>A	ENSP00000496726.1:n.742+1G>A
XM_011516010.1:c.742+1G>A	XP_011514312.1:n.742+1G>A
XM_011516010.2:c.742+1G>A	XP_011514312.1:n.742+1G>A
XM_011516011.1:c.742+1G>A	XP_011514313.1:n.742+1G>A
XM_011516011.2:c.742+1G>A	XP_011514313.1:n.742+1G>A
XM_011516012.1:c.742+1G>A	XP_011514314.1:n.742+1G>A
XM_011516012.2:c.742+1G>A	XP_011514314.1:n.742+1G>A
XM_011516013.1:c.742+1G>A	XP_011514315.1:n.742+1G>A
XM_011516013.2:c.742+1G>A	XP_011514315.1:n.742+1G>A
XM_011516014.1:c.742+1G>A	XP_011514316.1:n.742+1G>A
XM_011516014.2:c.742+1G>A	XP_011514316.1:n.742+1G>A
XM_011516015.1:c.742+1G>A	XP_011514317.1:n.742+1G>A
XM_011516016.1:c.451+1G>A	XP_011514318.1:n.451+1G>A
XM_011516017.1:c.268+1G>A	XP_011514319.1:n.268+1G>A
XM_011516017.2:c.268+1G>A	XP_011514319.1:n.268+1G>A
XM_011516018.1:c.241+1G>A	XP_011514320.1:n.241+1G>A
XM_011516018.2:c.241+1G>A	XP_011514320.1:n.241+1G>A
XM_017011951.2:c.742+1G>A	XP_016867440.1:n.742+1G>A