Canonical Allele Identifier: CA367669761

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242111T>A (hg19) ; chr7:g.70777125T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777125T>A , CM000669.2:g.70777125T>A	GRCh38
NC_000007.13:g.70242111T>A , CM000669.1:g.70242111T>A	GRCh37
NC_000007.12:g.69880047T>A	NCBI36
NG_034133.1:g.1183207T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.23T>A	ENSP00000514784.1:p.Met8Lys
ENST00000342771.10:c.1955T>A MANE Select	ENSP00000344087.4:p.Met652Lys
ENST00000439256.2:c.53T>A	ENSP00000407058.2:p.Met18Lys
ENST00000443672.2:c.290T>A	ENSP00000393548.2:p.Met97Lys
ENST00000449547.6:c.48T>A
ENST00000464768.2:n.623T>A
ENST00000644359.1:c.536T>A	ENSP00000494561.1:p.Met179Lys
ENST00000644506.1:c.581T>A	ENSP00000496672.1:p.Met194Lys
ENST00000644939.1:c.1952T>A	ENSP00000496726.1:p.Met651Lys
ENST00000644949.1:c.286T>A
ENST00000646136.1:n.266T>A
ENST00000647140.1:c.820T>A
ENST00000342771.8:c.1955T>A	ENSP00000344087.4:p.Met652Lys
ENST00000406775.6:c.1883T>A	ENSP00000385263.2:p.Met628Lys
ENST00000439256.1:c.53T>A
ENST00000443672.1:c.535T>A
ENST00000464768.1:n.621T>A
ENST00000465899.1:n.452T>A
ENST00000498384.5:n.323T>A
ENST00000611706.4:c.1211T>A	ENSP00000478134.1:p.Met404Lys
ENST00000615871.4:c.1139T>A	ENSP00000479325.1:p.Met380Lys
NM_001127231.2:c.1883T>A	NP_001120703.1:p.Met628Lys
NM_015570.3:c.1955T>A	NP_056385.1:p.Met652Lys
XM_005250257.1:c.602T>A	XP_005250314.1:p.Met201Lys
XM_011516010.1:c.1976T>A	XP_011514312.1:p.Met659Lys
XM_011516011.1:c.1973T>A	XP_011514313.1:p.Met658Lys
XM_011516012.1:c.1910T>A	XP_011514314.1:p.Met637Lys
XM_011516013.1:c.1904T>A	XP_011514315.1:p.Met635Lys
XM_011516014.1:c.1874T>A	XP_011514316.1:p.Met625Lys
XM_011516015.1:c.1712T>A	XP_011514317.1:p.Met571Lys
XM_011516016.1:c.1685T>A	XP_011514318.1:p.Met562Lys
XM_011516017.1:c.1502T>A	XP_011514319.1:p.Met501Lys
XM_011516018.1:c.1475T>A	XP_011514320.1:p.Met492Lys
XM_005250257.2:c.602T>A	XP_005250314.1:p.Met201Lys
XM_011516010.2:c.1976T>A	XP_011514312.1:p.Met659Lys
XM_011516011.2:c.1973T>A	XP_011514313.1:p.Met658Lys
XM_011516012.2:c.1910T>A	XP_011514314.1:p.Met637Lys
XM_011516013.2:c.1904T>A	XP_011514315.1:p.Met635Lys
XM_011516014.2:c.1874T>A	XP_011514316.1:p.Met625Lys
XM_011516017.2:c.1502T>A	XP_011514319.1:p.Met501Lys
XM_011516018.2:c.1475T>A	XP_011514320.1:p.Met492Lys
XM_017011951.2:c.1976T>A	XP_016867440.1:p.Met659Lys
NM_001127231.3:c.1883T>A	NP_001120703.1:p.Met628Lys
NM_015570.4:c.1955T>A MANE Select	NP_056385.1:p.Met652Lys