Canonical Allele Identifier: CA367667271

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70227943G>C (hg19) ; chr7:g.70762957G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70762957G>C , CM000669.2:g.70762957G>C	GRCh38
NC_000007.13:g.70227943G>C , CM000669.1:g.70227943G>C	GRCh37
NC_000007.12:g.69865879G>C	NCBI36
NG_034133.1:g.1169039G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.830G>C MANE Select	ENSP00000344087.4:p.Ser277Thr
ENST00000443672.2:c.-197-3157G>C	ENSP00000393548.2:n.-197-3157G>C
ENST00000644359.1:c.-542G>C	ENSP00000494561.1:n.-542G>C
ENST00000644506.1:c.-542G>C	ENSP00000496672.1:n.-542G>C
ENST00000644939.1:c.830G>C	ENSP00000496726.1:p.Ser277Thr
ENST00000656200.1:c.-545G>C	ENSP00000499508.1:n.-545G>C
ENST00000342771.8:c.830G>C	ENSP00000344087.4:p.Ser277Thr
ENST00000406775.6:c.830G>C	ENSP00000385263.2:p.Ser277Thr
ENST00000416482.1:c.171G>C
ENST00000611706.4:c.86G>C	ENSP00000478134.1:p.Ser29Thr
ENST00000615871.4:c.86G>C	ENSP00000479325.1:p.Ser29Thr
NM_001127231.2:c.830G>C	NP_001120703.1:p.Ser277Thr
NM_015570.3:c.830G>C	NP_056385.1:p.Ser277Thr
XM_011516010.1:c.830G>C	XP_011514312.1:p.Ser277Thr
XM_011516011.1:c.830G>C	XP_011514313.1:p.Ser277Thr
XM_011516012.1:c.830G>C	XP_011514314.1:p.Ser277Thr
XM_011516013.1:c.830G>C	XP_011514315.1:p.Ser277Thr
XM_011516014.1:c.830G>C	XP_011514316.1:p.Ser277Thr
XM_011516015.1:c.830G>C	XP_011514317.1:p.Ser277Thr
XM_011516016.1:c.539G>C	XP_011514318.1:p.Ser180Thr
XM_011516017.1:c.356G>C	XP_011514319.1:p.Ser119Thr
XM_011516018.1:c.329G>C	XP_011514320.1:p.Ser110Thr
XM_011516010.2:c.830G>C	XP_011514312.1:p.Ser277Thr
XM_011516011.2:c.830G>C	XP_011514313.1:p.Ser277Thr
XM_011516012.2:c.830G>C	XP_011514314.1:p.Ser277Thr
XM_011516013.2:c.830G>C	XP_011514315.1:p.Ser277Thr
XM_011516014.2:c.830G>C	XP_011514316.1:p.Ser277Thr
XM_011516017.2:c.356G>C	XP_011514319.1:p.Ser119Thr
XM_011516018.2:c.329G>C	XP_011514320.1:p.Ser110Thr
XM_017011951.2:c.830G>C	XP_016867440.1:p.Ser277Thr
NM_001127231.3:c.830G>C	NP_001120703.1:p.Ser277Thr
NM_015570.4:c.830G>C MANE Select	NP_056385.1:p.Ser277Thr