Canonical Allele Identifier: CA367669819

Gene: AUTS2

Linked Data

• dbSNP Id: rs1160707717
• gnomAD v2: 7-70242135-T-C
• gnomAD v4: 7-70777149-T-C
• MyVariant Identifiers: chr7:g.70242135T>C (hg19) ; chr7:g.70777149T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777149T>C , CM000669.2:g.70777149T>C	GRCh38
NC_000007.13:g.70242135T>C , CM000669.1:g.70242135T>C	GRCh37
NC_000007.12:g.69880071T>C	NCBI36
NG_034133.1:g.1183231T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.47T>C	ENSP00000514784.1:p.Ile16Thr
ENST00000342771.10:c.1979T>C MANE Select	ENSP00000344087.4:p.Ile660Thr
ENST00000439256.2:c.77T>C	ENSP00000407058.2:p.Ile26Thr
ENST00000443672.2:c.314T>C	ENSP00000393548.2:p.Ile105Thr
ENST00000449547.6:c.72T>C
ENST00000464768.2:n.647T>C
ENST00000644359.1:c.560T>C	ENSP00000494561.1:p.Ile187Thr
ENST00000644506.1:c.605T>C	ENSP00000496672.1:p.Ile202Thr
ENST00000644939.1:c.1976T>C	ENSP00000496726.1:p.Ile659Thr
ENST00000646136.1:n.290T>C
ENST00000647140.1:c.844T>C
ENST00000342771.8:c.1979T>C	ENSP00000344087.4:p.Ile660Thr
ENST00000406775.6:c.1907T>C	ENSP00000385263.2:p.Ile636Thr
ENST00000439256.1:c.77T>C
ENST00000464768.1:n.645T>C
ENST00000465899.1:n.476T>C
ENST00000498384.5:n.347T>C
ENST00000611706.4:c.1235T>C	ENSP00000478134.1:p.Ile412Thr
ENST00000615871.4:c.1163T>C	ENSP00000479325.1:p.Ile388Thr
NM_001127231.2:c.1907T>C	NP_001120703.1:p.Ile636Thr
NM_015570.3:c.1979T>C	NP_056385.1:p.Ile660Thr
XM_005250257.1:c.626T>C	XP_005250314.1:p.Ile209Thr
XM_011516010.1:c.2000T>C	XP_011514312.1:p.Ile667Thr
XM_011516011.1:c.1997T>C	XP_011514313.1:p.Ile666Thr
XM_011516012.1:c.1934T>C	XP_011514314.1:p.Ile645Thr
XM_011516013.1:c.1928T>C	XP_011514315.1:p.Ile643Thr
XM_011516014.1:c.1898T>C	XP_011514316.1:p.Ile633Thr
XM_011516015.1:c.1736T>C	XP_011514317.1:p.Ile579Thr
XM_011516016.1:c.1709T>C	XP_011514318.1:p.Ile570Thr
XM_011516017.1:c.1526T>C	XP_011514319.1:p.Ile509Thr
XM_011516018.1:c.1499T>C	XP_011514320.1:p.Ile500Thr
XM_005250257.2:c.626T>C	XP_005250314.1:p.Ile209Thr
XM_011516010.2:c.2000T>C	XP_011514312.1:p.Ile667Thr
XM_011516011.2:c.1997T>C	XP_011514313.1:p.Ile666Thr
XM_011516012.2:c.1934T>C	XP_011514314.1:p.Ile645Thr
XM_011516013.2:c.1928T>C	XP_011514315.1:p.Ile643Thr
XM_011516014.2:c.1898T>C	XP_011514316.1:p.Ile633Thr
XM_011516017.2:c.1526T>C	XP_011514319.1:p.Ile509Thr
XM_011516018.2:c.1499T>C	XP_011514320.1:p.Ile500Thr
XM_017011951.2:c.2000T>C	XP_016867440.1:p.Ile667Thr
NM_001127231.3:c.1907T>C	NP_001120703.1:p.Ile636Thr
NM_015570.4:c.1979T>C MANE Select	NP_056385.1:p.Ile660Thr