Canonical Allele Identifier: CA367669776

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242116G>T (hg19) ; chr7:g.70777130G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777130G>T , CM000669.2:g.70777130G>T	GRCh38
NC_000007.13:g.70242116G>T , CM000669.1:g.70242116G>T	GRCh37
NC_000007.12:g.69880052G>T	NCBI36
NG_034133.1:g.1183212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.28G>T	ENSP00000514784.1:p.Val10Phe
ENST00000342771.10:c.1960G>T MANE Select	ENSP00000344087.4:p.Val654Phe
ENST00000439256.2:c.58G>T	ENSP00000407058.2:p.Val20Phe
ENST00000443672.2:c.295G>T	ENSP00000393548.2:p.Val99Phe
ENST00000449547.6:c.53G>T
ENST00000464768.2:n.628G>T
ENST00000644359.1:c.541G>T	ENSP00000494561.1:p.Val181Phe
ENST00000644506.1:c.586G>T	ENSP00000496672.1:p.Val196Phe
ENST00000644939.1:c.1957G>T	ENSP00000496726.1:p.Val653Phe
ENST00000644949.1:c.291G>T
ENST00000646136.1:n.271G>T
ENST00000647140.1:c.825G>T
ENST00000342771.8:c.1960G>T	ENSP00000344087.4:p.Val654Phe
ENST00000406775.6:c.1888G>T	ENSP00000385263.2:p.Val630Phe
ENST00000439256.1:c.58G>T
ENST00000443672.1:c.540G>T
ENST00000464768.1:n.626G>T
ENST00000465899.1:n.457G>T
ENST00000498384.5:n.328G>T
ENST00000611706.4:c.1216G>T	ENSP00000478134.1:p.Val406Phe
ENST00000615871.4:c.1144G>T	ENSP00000479325.1:p.Val382Phe
NM_001127231.2:c.1888G>T	NP_001120703.1:p.Val630Phe
NM_015570.3:c.1960G>T	NP_056385.1:p.Val654Phe
XM_005250257.1:c.607G>T	XP_005250314.1:p.Val203Phe
XM_011516010.1:c.1981G>T	XP_011514312.1:p.Val661Phe
XM_011516011.1:c.1978G>T	XP_011514313.1:p.Val660Phe
XM_011516012.1:c.1915G>T	XP_011514314.1:p.Val639Phe
XM_011516013.1:c.1909G>T	XP_011514315.1:p.Val637Phe
XM_011516014.1:c.1879G>T	XP_011514316.1:p.Val627Phe
XM_011516015.1:c.1717G>T	XP_011514317.1:p.Val573Phe
XM_011516016.1:c.1690G>T	XP_011514318.1:p.Val564Phe
XM_011516017.1:c.1507G>T	XP_011514319.1:p.Val503Phe
XM_011516018.1:c.1480G>T	XP_011514320.1:p.Val494Phe
XM_005250257.2:c.607G>T	XP_005250314.1:p.Val203Phe
XM_011516010.2:c.1981G>T	XP_011514312.1:p.Val661Phe
XM_011516011.2:c.1978G>T	XP_011514313.1:p.Val660Phe
XM_011516012.2:c.1915G>T	XP_011514314.1:p.Val639Phe
XM_011516013.2:c.1909G>T	XP_011514315.1:p.Val637Phe
XM_011516014.2:c.1879G>T	XP_011514316.1:p.Val627Phe
XM_011516017.2:c.1507G>T	XP_011514319.1:p.Val503Phe
XM_011516018.2:c.1480G>T	XP_011514320.1:p.Val494Phe
XM_017011951.2:c.1981G>T	XP_016867440.1:p.Val661Phe
NM_001127231.3:c.1888G>T	NP_001120703.1:p.Val630Phe
NM_015570.4:c.1960G>T MANE Select	NP_056385.1:p.Val654Phe