Canonical Allele Identifier: CA160619771

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70435482C>T , CM000669.2:g.70435482C>T	GRCh38
NC_000007.13:g.69900468C>T , CM000669.1:g.69900468C>T	GRCh37
NC_000007.12:g.69538404C>T	NCBI36
NG_034133.1:g.841564C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015570.4:c.661-270C>T MANE Select	NP_056385.1:n.661-270C>T
ENST00000342771.10:c.661-270C>T MANE Select	ENSP00000344087.4:n.661-270C>T
NM_001127231.2:c.661-270C>T	NP_001120703.1:n.661-270C>T
NM_001127231.3:c.661-270C>T	NP_001120703.1:n.661-270C>T
NM_015570.3:c.661-270C>T	NP_056385.1:n.661-270C>T
ENST00000342771.8:c.661-270C>T	ENSP00000344087.4:n.661-270C>T
ENST00000406775.6:c.661-270C>T	ENSP00000385263.2:n.661-270C>T
ENST00000475660.1:n.132-270C>T
ENST00000475660.2:n.132-270C>T
ENST00000643060.1:n.17-270C>T
ENST00000644939.1:c.661-270C>T	ENSP00000496726.1:n.661-270C>T
XM_011516010.1:c.661-270C>T	XP_011514312.1:n.661-270C>T
XM_011516010.2:c.661-270C>T	XP_011514312.1:n.661-270C>T
XM_011516011.1:c.661-270C>T	XP_011514313.1:n.661-270C>T
XM_011516011.2:c.661-270C>T	XP_011514313.1:n.661-270C>T
XM_011516012.1:c.661-270C>T	XP_011514314.1:n.661-270C>T
XM_011516012.2:c.661-270C>T	XP_011514314.1:n.661-270C>T
XM_011516013.1:c.661-270C>T	XP_011514315.1:n.661-270C>T
XM_011516013.2:c.661-270C>T	XP_011514315.1:n.661-270C>T
XM_011516014.1:c.661-270C>T	XP_011514316.1:n.661-270C>T
XM_011516014.2:c.661-270C>T	XP_011514316.1:n.661-270C>T
XM_011516015.1:c.661-270C>T	XP_011514317.1:n.661-270C>T
XM_011516016.1:c.370-270C>T	XP_011514318.1:n.370-270C>T
XM_011516017.1:c.187-270C>T	XP_011514319.1:n.187-270C>T
XM_011516017.2:c.187-270C>T	XP_011514319.1:n.187-270C>T
XM_011516018.1:c.160-270C>T	XP_011514320.1:n.160-270C>T
XM_011516018.2:c.160-270C>T	XP_011514320.1:n.160-270C>T
XM_017011951.2:c.661-270C>T	XP_016867440.1:n.661-270C>T