Canonical Allele Identifier: CA575288447

Gene: AUTS2

Linked Data

• gnomAD v2: 7-70242237-A-G
• gnomAD v4: 7-70777251-A-G
• MyVariant Identifiers: chr7:g.70242237A>G (hg19) ; chr7:g.70777251A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777251A>G , CM000669.2:g.70777251A>G	GRCh38
NC_000007.13:g.70242237A>G , CM000669.1:g.70242237A>G	GRCh37
NC_000007.12:g.69880173A>G	NCBI36
NG_034133.1:g.1183333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.72+77A>G	ENSP00000514784.1:n.72+77A>G
ENST00000342771.10:c.2004+77A>G MANE Select	ENSP00000344087.4:n.2004+77A>G
ENST00000439256.2:c.145+34A>G	ENSP00000407058.2:n.145+34A>G
ENST00000443672.2:c.339+77A>G	ENSP00000393548.2:n.339+77A>G
ENST00000449547.6:c.97+77A>G
ENST00000464768.2:n.672+77A>G
ENST00000644359.1:c.585+77A>G	ENSP00000494561.1:n.585+77A>G
ENST00000644506.1:c.630+77A>G	ENSP00000496672.1:n.630+77A>G
ENST00000644939.1:c.2001+77A>G	ENSP00000496726.1:n.2001+77A>G
ENST00000646136.1:n.315+77A>G
ENST00000647140.1:c.869+77A>G
ENST00000342771.8:c.2004+77A>G	ENSP00000344087.4:n.2004+77A>G
ENST00000406775.6:c.1932+77A>G	ENSP00000385263.2:n.1932+77A>G
ENST00000439256.1:c.145+34A>G
ENST00000464768.1:n.670+77A>G
ENST00000465899.1:n.501+77A>G
ENST00000498384.5:n.372+77A>G
ENST00000611706.4:c.1260+77A>G	ENSP00000478134.1:n.1260+77A>G
ENST00000615871.4:c.1188+77A>G	ENSP00000479325.1:n.1188+77A>G
NM_001127231.2:c.1932+77A>G	NP_001120703.1:n.1932+77A>G
NM_015570.3:c.2004+77A>G	NP_056385.1:n.2004+77A>G
XM_005250257.1:c.651+77A>G	XP_005250314.1:n.651+77A>G
XM_011516010.1:c.2025+77A>G	XP_011514312.1:n.2025+77A>G
XM_011516011.1:c.2022+77A>G	XP_011514313.1:n.2022+77A>G
XM_011516012.1:c.1959+77A>G	XP_011514314.1:n.1959+77A>G
XM_011516013.1:c.1953+77A>G	XP_011514315.1:n.1953+77A>G
XM_011516014.1:c.1923+77A>G	XP_011514316.1:n.1923+77A>G
XM_011516015.1:c.1761+77A>G	XP_011514317.1:n.1761+77A>G
XM_011516016.1:c.1734+77A>G	XP_011514318.1:n.1734+77A>G
XM_011516017.1:c.1551+77A>G	XP_011514319.1:n.1551+77A>G
XM_011516018.1:c.1524+77A>G	XP_011514320.1:n.1524+77A>G
XM_005250257.2:c.651+77A>G	XP_005250314.1:n.651+77A>G
XM_011516010.2:c.2025+77A>G	XP_011514312.1:n.2025+77A>G
XM_011516011.2:c.2022+77A>G	XP_011514313.1:n.2022+77A>G
XM_011516012.2:c.1959+77A>G	XP_011514314.1:n.1959+77A>G
XM_011516013.2:c.1953+77A>G	XP_011514315.1:n.1953+77A>G
XM_011516014.2:c.1923+77A>G	XP_011514316.1:n.1923+77A>G
XM_011516017.2:c.1551+77A>G	XP_011514319.1:n.1551+77A>G
XM_011516018.2:c.1524+77A>G	XP_011514320.1:n.1524+77A>G
XM_017011951.2:c.2025+77A>G	XP_016867440.1:n.2025+77A>G
NM_001127231.3:c.1932+77A>G	NP_001120703.1:n.1932+77A>G
NM_015570.4:c.2004+77A>G MANE Select	NP_056385.1:n.2004+77A>G