Canonical Allele Identifier: CA367663472

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 2499620
• ClinVar RCV Id: RCV003223549
• MyVariant Identifiers: chr7:g.70250006G>T (hg19) ; chr7:g.70785020G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70785020G>T , CM000669.2:g.70785020G>T	GRCh38
NC_000007.13:g.70250006G>T , CM000669.1:g.70250006G>T	GRCh37
NC_000007.12:g.69887942G>T	NCBI36
NG_034133.1:g.1191102G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.150+1G>T	ENSP00000514784.1:n.150+1G>T
ENST00000342771.10:c.2224+1G>T MANE Select	ENSP00000344087.4:n.2224+1G>T
ENST00000439256.2:c.365+1G>T	ENSP00000407058.2:n.365+1G>T
ENST00000449547.6:c.317+1G>T
ENST00000464768.2:n.892+1G>T
ENST00000644359.1:c.805+1G>T	ENSP00000494561.1:n.805+1G>T
ENST00000644506.1:c.850+1G>T	ENSP00000496672.1:n.850+1G>T
ENST00000644939.1:c.2221+1G>T	ENSP00000496726.1:n.2221+1G>T
ENST00000647140.1:c.1089+1G>T
ENST00000342771.8:c.2224+1G>T	ENSP00000344087.4:n.2224+1G>T
ENST00000406775.6:c.2152+1G>T	ENSP00000385263.2:n.2152+1G>T
ENST00000439256.1:c.365+1G>T
ENST00000449547.5:c.192+1G>T
ENST00000498384.5:n.592+1G>T
ENST00000611706.4:c.1480+1G>T	ENSP00000478134.1:n.1480+1G>T
ENST00000615871.4:c.1408+1G>T	ENSP00000479325.1:n.1408+1G>T
NM_001127231.2:c.2152+1G>T	NP_001120703.1:n.2152+1G>T
NM_015570.3:c.2224+1G>T	NP_056385.1:n.2224+1G>T
XM_005250257.1:c.871+1G>T	XP_005250314.1:n.871+1G>T
XM_011516010.1:c.2245+1G>T	XP_011514312.1:n.2245+1G>T
XM_011516011.1:c.2242+1G>T	XP_011514313.1:n.2242+1G>T
XM_011516012.1:c.2179+1G>T	XP_011514314.1:n.2179+1G>T
XM_011516013.1:c.2173+1G>T	XP_011514315.1:n.2173+1G>T
XM_011516014.1:c.2143+1G>T	XP_011514316.1:n.2143+1G>T
XM_011516015.1:c.1981+1G>T	XP_011514317.1:n.1981+1G>T
XM_011516016.1:c.1954+1G>T	XP_011514318.1:n.1954+1G>T
XM_011516017.1:c.1771+1G>T	XP_011514319.1:n.1771+1G>T
XM_011516018.1:c.1744+1G>T	XP_011514320.1:n.1744+1G>T
XM_005250257.2:c.871+1G>T	XP_005250314.1:n.871+1G>T
XM_011516010.2:c.2245+1G>T	XP_011514312.1:n.2245+1G>T
XM_011516011.2:c.2242+1G>T	XP_011514313.1:n.2242+1G>T
XM_011516012.2:c.2179+1G>T	XP_011514314.1:n.2179+1G>T
XM_011516013.2:c.2173+1G>T	XP_011514315.1:n.2173+1G>T
XM_011516014.2:c.2143+1G>T	XP_011514316.1:n.2143+1G>T
XM_011516017.2:c.1771+1G>T	XP_011514319.1:n.1771+1G>T
XM_011516018.2:c.1744+1G>T	XP_011514320.1:n.1744+1G>T
XM_017011951.2:c.2245+1G>T	XP_016867440.1:n.2245+1G>T
NM_001127231.3:c.2152+1G>T	NP_001120703.1:n.2152+1G>T
NM_015570.4:c.2224+1G>T MANE Select	NP_056385.1:n.2224+1G>T