Canonical Allele Identifier: CA367667345

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70227972G>C (hg19) ; chr7:g.70762986G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70762986G>C , CM000669.2:g.70762986G>C	GRCh38
NC_000007.13:g.70227972G>C , CM000669.1:g.70227972G>C	GRCh37
NC_000007.12:g.69865908G>C	NCBI36
NG_034133.1:g.1169068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.859G>C MANE Select	ENSP00000344087.4:p.Glu287Gln
ENST00000443672.2:c.-197-3128G>C	ENSP00000393548.2:n.-197-3128G>C
ENST00000644359.1:c.-513G>C	ENSP00000494561.1:n.-513G>C
ENST00000644506.1:c.-513G>C	ENSP00000496672.1:n.-513G>C
ENST00000644939.1:c.859G>C	ENSP00000496726.1:p.Glu287Gln
ENST00000656200.1:c.-516G>C	ENSP00000499508.1:n.-516G>C
ENST00000342771.8:c.859G>C	ENSP00000344087.4:p.Glu287Gln
ENST00000406775.6:c.859G>C	ENSP00000385263.2:p.Glu287Gln
ENST00000416482.1:c.200G>C
ENST00000611706.4:c.115G>C	ENSP00000478134.1:p.Glu39Gln
ENST00000615871.4:c.115G>C	ENSP00000479325.1:p.Glu39Gln
NM_001127231.2:c.859G>C	NP_001120703.1:p.Glu287Gln
NM_015570.3:c.859G>C	NP_056385.1:p.Glu287Gln
XM_011516010.1:c.859G>C	XP_011514312.1:p.Glu287Gln
XM_011516011.1:c.859G>C	XP_011514313.1:p.Glu287Gln
XM_011516012.1:c.859G>C	XP_011514314.1:p.Glu287Gln
XM_011516013.1:c.859G>C	XP_011514315.1:p.Glu287Gln
XM_011516014.1:c.859G>C	XP_011514316.1:p.Glu287Gln
XM_011516015.1:c.859G>C	XP_011514317.1:p.Glu287Gln
XM_011516016.1:c.568G>C	XP_011514318.1:p.Glu190Gln
XM_011516017.1:c.385G>C	XP_011514319.1:p.Glu129Gln
XM_011516018.1:c.358G>C	XP_011514320.1:p.Glu120Gln
XM_011516010.2:c.859G>C	XP_011514312.1:p.Glu287Gln
XM_011516011.2:c.859G>C	XP_011514313.1:p.Glu287Gln
XM_011516012.2:c.859G>C	XP_011514314.1:p.Glu287Gln
XM_011516013.2:c.859G>C	XP_011514315.1:p.Glu287Gln
XM_011516014.2:c.859G>C	XP_011514316.1:p.Glu287Gln
XM_011516017.2:c.385G>C	XP_011514319.1:p.Glu129Gln
XM_011516018.2:c.358G>C	XP_011514320.1:p.Glu120Gln
XM_017011951.2:c.859G>C	XP_016867440.1:p.Glu287Gln
NM_001127231.3:c.859G>C	NP_001120703.1:p.Glu287Gln
NM_015570.4:c.859G>C MANE Select	NP_056385.1:p.Glu287Gln