Canonical Allele Identifier: CA2580747684

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70777190-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777190G>T , CM000669.2:g.70777190G>T	GRCh38
NC_000007.13:g.70242176G>T , CM000669.1:g.70242176G>T	GRCh37
NC_000007.12:g.69880112G>T	NCBI36
NG_034133.1:g.1183272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.72+16G>T	ENSP00000514784.1:n.72+16G>T
ENST00000342771.10:c.2004+16G>T MANE Select	ENSP00000344087.4:n.2004+16G>T
ENST00000439256.2:c.118G>T	ENSP00000407058.2:p.Val40Leu
ENST00000443672.2:c.339+16G>T	ENSP00000393548.2:n.339+16G>T
ENST00000449547.6:c.97+16G>T
ENST00000464768.2:n.672+16G>T
ENST00000644359.1:c.585+16G>T	ENSP00000494561.1:n.585+16G>T
ENST00000644506.1:c.630+16G>T	ENSP00000496672.1:n.630+16G>T
ENST00000644939.1:c.2001+16G>T	ENSP00000496726.1:n.2001+16G>T
ENST00000646136.1:n.315+16G>T
ENST00000647140.1:c.869+16G>T
ENST00000342771.8:c.2004+16G>T	ENSP00000344087.4:n.2004+16G>T
ENST00000406775.6:c.1932+16G>T	ENSP00000385263.2:n.1932+16G>T
ENST00000439256.1:c.118G>T
ENST00000464768.1:n.670+16G>T
ENST00000465899.1:n.501+16G>T
ENST00000498384.5:n.372+16G>T
ENST00000611706.4:c.1260+16G>T	ENSP00000478134.1:n.1260+16G>T
ENST00000615871.4:c.1188+16G>T	ENSP00000479325.1:n.1188+16G>T
NM_001127231.2:c.1932+16G>T	NP_001120703.1:n.1932+16G>T
NM_015570.3:c.2004+16G>T	NP_056385.1:n.2004+16G>T
XM_005250257.1:c.651+16G>T	XP_005250314.1:n.651+16G>T
XM_011516010.1:c.2025+16G>T	XP_011514312.1:n.2025+16G>T
XM_011516011.1:c.2022+16G>T	XP_011514313.1:n.2022+16G>T
XM_011516012.1:c.1959+16G>T	XP_011514314.1:n.1959+16G>T
XM_011516013.1:c.1953+16G>T	XP_011514315.1:n.1953+16G>T
XM_011516014.1:c.1923+16G>T	XP_011514316.1:n.1923+16G>T
XM_011516015.1:c.1761+16G>T	XP_011514317.1:n.1761+16G>T
XM_011516016.1:c.1734+16G>T	XP_011514318.1:n.1734+16G>T
XM_011516017.1:c.1551+16G>T	XP_011514319.1:n.1551+16G>T
XM_011516018.1:c.1524+16G>T	XP_011514320.1:n.1524+16G>T
XM_005250257.2:c.651+16G>T	XP_005250314.1:n.651+16G>T
XM_011516010.2:c.2025+16G>T	XP_011514312.1:n.2025+16G>T
XM_011516011.2:c.2022+16G>T	XP_011514313.1:n.2022+16G>T
XM_011516012.2:c.1959+16G>T	XP_011514314.1:n.1959+16G>T
XM_011516013.2:c.1953+16G>T	XP_011514315.1:n.1953+16G>T
XM_011516014.2:c.1923+16G>T	XP_011514316.1:n.1923+16G>T
XM_011516017.2:c.1551+16G>T	XP_011514319.1:n.1551+16G>T
XM_011516018.2:c.1524+16G>T	XP_011514320.1:n.1524+16G>T
XM_017011951.2:c.2025+16G>T	XP_016867440.1:n.2025+16G>T
NM_001127231.3:c.1932+16G>T	NP_001120703.1:n.1932+16G>T
NM_015570.4:c.2004+16G>T MANE Select	NP_056385.1:n.2004+16G>T