Canonical Allele Identifier: CA367669865

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242153A>C (hg19) ; chr7:g.70777167A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777167A>C , CM000669.2:g.70777167A>C	GRCh38
NC_000007.13:g.70242153A>C , CM000669.1:g.70242153A>C	GRCh37
NC_000007.12:g.69880089A>C	NCBI36
NG_034133.1:g.1183249A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.65A>C	ENSP00000514784.1:p.Lys22Thr
ENST00000342771.10:c.1997A>C MANE Select	ENSP00000344087.4:p.Lys666Thr
ENST00000439256.2:c.95A>C	ENSP00000407058.2:p.Lys32Thr
ENST00000443672.2:c.332A>C	ENSP00000393548.2:p.Lys111Thr
ENST00000449547.6:c.90A>C
ENST00000464768.2:n.665A>C
ENST00000644359.1:c.578A>C	ENSP00000494561.1:p.Lys193Thr
ENST00000644506.1:c.623A>C	ENSP00000496672.1:p.Lys208Thr
ENST00000644939.1:c.1994A>C	ENSP00000496726.1:p.Lys665Thr
ENST00000646136.1:n.308A>C
ENST00000647140.1:c.862A>C
ENST00000342771.8:c.1997A>C	ENSP00000344087.4:p.Lys666Thr
ENST00000406775.6:c.1925A>C	ENSP00000385263.2:p.Lys642Thr
ENST00000439256.1:c.95A>C
ENST00000464768.1:n.663A>C
ENST00000465899.1:n.494A>C
ENST00000498384.5:n.365A>C
ENST00000611706.4:c.1253A>C	ENSP00000478134.1:p.Lys418Thr
ENST00000615871.4:c.1181A>C	ENSP00000479325.1:p.Lys394Thr
NM_001127231.2:c.1925A>C	NP_001120703.1:p.Lys642Thr
NM_015570.3:c.1997A>C	NP_056385.1:p.Lys666Thr
XM_005250257.1:c.644A>C	XP_005250314.1:p.Lys215Thr
XM_011516010.1:c.2018A>C	XP_011514312.1:p.Lys673Thr
XM_011516011.1:c.2015A>C	XP_011514313.1:p.Lys672Thr
XM_011516012.1:c.1952A>C	XP_011514314.1:p.Lys651Thr
XM_011516013.1:c.1946A>C	XP_011514315.1:p.Lys649Thr
XM_011516014.1:c.1916A>C	XP_011514316.1:p.Lys639Thr
XM_011516015.1:c.1754A>C	XP_011514317.1:p.Lys585Thr
XM_011516016.1:c.1727A>C	XP_011514318.1:p.Lys576Thr
XM_011516017.1:c.1544A>C	XP_011514319.1:p.Lys515Thr
XM_011516018.1:c.1517A>C	XP_011514320.1:p.Lys506Thr
XM_005250257.2:c.644A>C	XP_005250314.1:p.Lys215Thr
XM_011516010.2:c.2018A>C	XP_011514312.1:p.Lys673Thr
XM_011516011.2:c.2015A>C	XP_011514313.1:p.Lys672Thr
XM_011516012.2:c.1952A>C	XP_011514314.1:p.Lys651Thr
XM_011516013.2:c.1946A>C	XP_011514315.1:p.Lys649Thr
XM_011516014.2:c.1916A>C	XP_011514316.1:p.Lys639Thr
XM_011516017.2:c.1544A>C	XP_011514319.1:p.Lys515Thr
XM_011516018.2:c.1517A>C	XP_011514320.1:p.Lys506Thr
XM_017011951.2:c.2018A>C	XP_016867440.1:p.Lys673Thr
NM_001127231.3:c.1925A>C	NP_001120703.1:p.Lys642Thr
NM_015570.4:c.1997A>C MANE Select	NP_056385.1:p.Lys666Thr