Canonical Allele Identifier: CA367669796

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242125G>C (hg19) ; chr7:g.70777139G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777139G>C , CM000669.2:g.70777139G>C	GRCh38
NC_000007.13:g.70242125G>C , CM000669.1:g.70242125G>C	GRCh37
NC_000007.12:g.69880061G>C	NCBI36
NG_034133.1:g.1183221G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.37G>C	ENSP00000514784.1:p.Ala13Pro
ENST00000342771.10:c.1969G>C MANE Select	ENSP00000344087.4:p.Ala657Pro
ENST00000439256.2:c.67G>C	ENSP00000407058.2:p.Ala23Pro
ENST00000443672.2:c.304G>C	ENSP00000393548.2:p.Ala102Pro
ENST00000449547.6:c.62G>C
ENST00000464768.2:n.637G>C
ENST00000644359.1:c.550G>C	ENSP00000494561.1:p.Ala184Pro
ENST00000644506.1:c.595G>C	ENSP00000496672.1:p.Ala199Pro
ENST00000644939.1:c.1966G>C	ENSP00000496726.1:p.Ala656Pro
ENST00000646136.1:n.280G>C
ENST00000647140.1:c.834G>C
ENST00000342771.8:c.1969G>C	ENSP00000344087.4:p.Ala657Pro
ENST00000406775.6:c.1897G>C	ENSP00000385263.2:p.Ala633Pro
ENST00000439256.1:c.67G>C
ENST00000464768.1:n.635G>C
ENST00000465899.1:n.466G>C
ENST00000498384.5:n.337G>C
ENST00000611706.4:c.1225G>C	ENSP00000478134.1:p.Ala409Pro
ENST00000615871.4:c.1153G>C	ENSP00000479325.1:p.Ala385Pro
NM_001127231.2:c.1897G>C	NP_001120703.1:p.Ala633Pro
NM_015570.3:c.1969G>C	NP_056385.1:p.Ala657Pro
XM_005250257.1:c.616G>C	XP_005250314.1:p.Ala206Pro
XM_011516010.1:c.1990G>C	XP_011514312.1:p.Ala664Pro
XM_011516011.1:c.1987G>C	XP_011514313.1:p.Ala663Pro
XM_011516012.1:c.1924G>C	XP_011514314.1:p.Ala642Pro
XM_011516013.1:c.1918G>C	XP_011514315.1:p.Ala640Pro
XM_011516014.1:c.1888G>C	XP_011514316.1:p.Ala630Pro
XM_011516015.1:c.1726G>C	XP_011514317.1:p.Ala576Pro
XM_011516016.1:c.1699G>C	XP_011514318.1:p.Ala567Pro
XM_011516017.1:c.1516G>C	XP_011514319.1:p.Ala506Pro
XM_011516018.1:c.1489G>C	XP_011514320.1:p.Ala497Pro
XM_005250257.2:c.616G>C	XP_005250314.1:p.Ala206Pro
XM_011516010.2:c.1990G>C	XP_011514312.1:p.Ala664Pro
XM_011516011.2:c.1987G>C	XP_011514313.1:p.Ala663Pro
XM_011516012.2:c.1924G>C	XP_011514314.1:p.Ala642Pro
XM_011516013.2:c.1918G>C	XP_011514315.1:p.Ala640Pro
XM_011516014.2:c.1888G>C	XP_011514316.1:p.Ala630Pro
XM_011516017.2:c.1516G>C	XP_011514319.1:p.Ala506Pro
XM_011516018.2:c.1489G>C	XP_011514320.1:p.Ala497Pro
XM_017011951.2:c.1990G>C	XP_016867440.1:p.Ala664Pro
NM_001127231.3:c.1897G>C	NP_001120703.1:p.Ala633Pro
NM_015570.4:c.1969G>C MANE Select	NP_056385.1:p.Ala657Pro