Canonical Allele Identifier: CA367662987

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70781614G>C , CM000669.2:g.70781614G>C	GRCh38
NC_000007.13:g.70246600G>C , CM000669.1:g.70246600G>C	GRCh37
NC_000007.12:g.69884536G>C	NCBI36
NG_034133.1:g.1187696G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015570.4:c.2005-1G>C MANE Select	NP_056385.1:n.2005-1G>C
ENST00000342771.10:c.2005-1G>C MANE Select	ENSP00000344087.4:n.2005-1G>C
NM_001127231.2:c.1933-1G>C	NP_001120703.1:n.1933-1G>C
NM_001127231.3:c.1933-1G>C	NP_001120703.1:n.1933-1G>C
NM_015570.3:c.2005-1G>C	NP_056385.1:n.2005-1G>C
ENST00000342771.8:c.2005-1G>C	ENSP00000344087.4:n.2005-1G>C
ENST00000406775.6:c.1933-1G>C	ENSP00000385263.2:n.1933-1G>C
ENST00000439256.1:c.146-1G>C
ENST00000439256.2:c.146-1G>C	ENSP00000407058.2:n.146-1G>C
ENST00000443672.2:c.340-1G>C	ENSP00000393548.2:n.340-1G>C
ENST00000449547.6:c.98-1G>C
ENST00000464768.1:n.671-1G>C
ENST00000464768.2:n.673-1G>C
ENST00000465899.1:n.502-1G>C
ENST00000498384.5:n.373-1G>C
ENST00000611706.4:c.1261-1G>C	ENSP00000478134.1:n.1261-1G>C
ENST00000615871.4:c.1189-1G>C	ENSP00000479325.1:n.1189-1G>C
ENST00000644359.1:c.586-1G>C	ENSP00000494561.1:n.586-1G>C
ENST00000644506.1:c.631-1G>C	ENSP00000496672.1:n.631-1G>C
ENST00000644939.1:c.2002-1G>C	ENSP00000496726.1:n.2002-1G>C
ENST00000646136.1:n.316-7G>C
ENST00000647121.1:n.145G>C
ENST00000647140.1:c.870-1G>C
ENST00000700075.1:c.73-3328G>C	ENSP00000514784.1:n.73-3328G>C
XM_005250257.1:c.652-1G>C	XP_005250314.1:n.652-1G>C
XM_005250257.2:c.652-1G>C	XP_005250314.1:n.652-1G>C
XM_011516010.1:c.2026-1G>C	XP_011514312.1:n.2026-1G>C
XM_011516010.2:c.2026-1G>C	XP_011514312.1:n.2026-1G>C
XM_011516011.1:c.2023-1G>C	XP_011514313.1:n.2023-1G>C
XM_011516011.2:c.2023-1G>C	XP_011514313.1:n.2023-1G>C
XM_011516012.1:c.1960-1G>C	XP_011514314.1:n.1960-1G>C
XM_011516012.2:c.1960-1G>C	XP_011514314.1:n.1960-1G>C
XM_011516013.1:c.1954-1G>C	XP_011514315.1:n.1954-1G>C
XM_011516013.2:c.1954-1G>C	XP_011514315.1:n.1954-1G>C
XM_011516014.1:c.1924-1G>C	XP_011514316.1:n.1924-1G>C
XM_011516014.2:c.1924-1G>C	XP_011514316.1:n.1924-1G>C
XM_011516015.1:c.1762-1G>C	XP_011514317.1:n.1762-1G>C
XM_011516016.1:c.1735-1G>C	XP_011514318.1:n.1735-1G>C
XM_011516017.1:c.1552-1G>C	XP_011514319.1:n.1552-1G>C
XM_011516017.2:c.1552-1G>C	XP_011514319.1:n.1552-1G>C
XM_011516018.1:c.1525-1G>C	XP_011514320.1:n.1525-1G>C
XM_011516018.2:c.1525-1G>C	XP_011514320.1:n.1525-1G>C
XM_017011951.2:c.2026-1G>C	XP_016867440.1:n.2026-1G>C