Canonical Allele Identifier: CA455803133

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242127C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777141C>A , CM000669.2:g.70777141C>A	GRCh38
NC_000007.13:g.70242127C>A , CM000669.1:g.70242127C>A	GRCh37
NC_000007.12:g.69880063C>A	NCBI36
NG_034133.1:g.1183223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.39C>A	ENSP00000514784.1:p.Ala13=
ENST00000342771.10:c.1971C>A MANE Select	ENSP00000344087.4:p.Ala657=
ENST00000439256.2:c.69C>A	ENSP00000407058.2:p.Ala23=
ENST00000443672.2:c.306C>A	ENSP00000393548.2:p.Ala102=
ENST00000449547.6:c.64C>A
ENST00000464768.2:n.639C>A
ENST00000644359.1:c.552C>A	ENSP00000494561.1:p.Ala184=
ENST00000644506.1:c.597C>A	ENSP00000496672.1:p.Ala199=
ENST00000644939.1:c.1968C>A	ENSP00000496726.1:p.Ala656=
ENST00000646136.1:n.282C>A
ENST00000647140.1:c.836C>A
ENST00000342771.8:c.1971C>A	ENSP00000344087.4:p.Ala657=
ENST00000406775.6:c.1899C>A	ENSP00000385263.2:p.Ala633=
ENST00000439256.1:c.69C>A
ENST00000464768.1:n.637C>A
ENST00000465899.1:n.468C>A
ENST00000498384.5:n.339C>A
ENST00000611706.4:c.1227C>A	ENSP00000478134.1:p.Ala409=
ENST00000615871.4:c.1155C>A	ENSP00000479325.1:p.Ala385=
NM_001127231.2:c.1899C>A	NP_001120703.1:p.Ala633=
NM_015570.3:c.1971C>A	NP_056385.1:p.Ala657=
XM_005250257.1:c.618C>A	XP_005250314.1:p.Ala206=
XM_011516010.1:c.1992C>A	XP_011514312.1:p.Ala664=
XM_011516011.1:c.1989C>A	XP_011514313.1:p.Ala663=
XM_011516012.1:c.1926C>A	XP_011514314.1:p.Ala642=
XM_011516013.1:c.1920C>A	XP_011514315.1:p.Ala640=
XM_011516014.1:c.1890C>A	XP_011514316.1:p.Ala630=
XM_011516015.1:c.1728C>A	XP_011514317.1:p.Ala576=
XM_011516016.1:c.1701C>A	XP_011514318.1:p.Ala567=
XM_011516017.1:c.1518C>A	XP_011514319.1:p.Ala506=
XM_011516018.1:c.1491C>A	XP_011514320.1:p.Ala497=
XM_005250257.2:c.618C>A	XP_005250314.1:p.Ala206=
XM_011516010.2:c.1992C>A	XP_011514312.1:p.Ala664=
XM_011516011.2:c.1989C>A	XP_011514313.1:p.Ala663=
XM_011516012.2:c.1926C>A	XP_011514314.1:p.Ala642=
XM_011516013.2:c.1920C>A	XP_011514315.1:p.Ala640=
XM_011516014.2:c.1890C>A	XP_011514316.1:p.Ala630=
XM_011516017.2:c.1518C>A	XP_011514319.1:p.Ala506=
XM_011516018.2:c.1491C>A	XP_011514320.1:p.Ala497=
XM_017011951.2:c.1992C>A	XP_016867440.1:p.Ala664=
NM_001127231.3:c.1899C>A	NP_001120703.1:p.Ala633=
NM_015570.4:c.1971C>A MANE Select	NP_056385.1:p.Ala657=