Canonical Allele Identifier: CA367669882

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242160G>T (hg19) ; chr7:g.70777174G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777174G>T , CM000669.2:g.70777174G>T	GRCh38
NC_000007.13:g.70242160G>T , CM000669.1:g.70242160G>T	GRCh37
NC_000007.12:g.69880096G>T	NCBI36
NG_034133.1:g.1183256G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.72G>T	ENSP00000514784.1:p.Lys24Asn
ENST00000342771.10:c.2004G>T MANE Select	ENSP00000344087.4:p.Lys668Asn
ENST00000439256.2:c.102G>T	ENSP00000407058.2:p.Lys34Asn
ENST00000443672.2:c.339G>T	ENSP00000393548.2:p.Lys113Asn
ENST00000449547.6:c.97G>T
ENST00000464768.2:n.672G>T
ENST00000644359.1:c.585G>T	ENSP00000494561.1:p.Lys195Asn
ENST00000644506.1:c.630G>T	ENSP00000496672.1:p.Lys210Asn
ENST00000644939.1:c.2001G>T	ENSP00000496726.1:p.Lys667Asn
ENST00000646136.1:n.315G>T
ENST00000647140.1:c.869G>T
ENST00000342771.8:c.2004G>T	ENSP00000344087.4:p.Lys668Asn
ENST00000406775.6:c.1932G>T	ENSP00000385263.2:p.Lys644Asn
ENST00000439256.1:c.102G>T
ENST00000464768.1:n.670G>T
ENST00000465899.1:n.501G>T
ENST00000498384.5:n.372G>T
ENST00000611706.4:c.1260G>T	ENSP00000478134.1:p.Lys420Asn
ENST00000615871.4:c.1188G>T	ENSP00000479325.1:p.Lys396Asn
NM_001127231.2:c.1932G>T	NP_001120703.1:p.Lys644Asn
NM_015570.3:c.2004G>T	NP_056385.1:p.Lys668Asn
XM_005250257.1:c.651G>T	XP_005250314.1:p.Lys217Asn
XM_011516010.1:c.2025G>T	XP_011514312.1:p.Lys675Asn
XM_011516011.1:c.2022G>T	XP_011514313.1:p.Lys674Asn
XM_011516012.1:c.1959G>T	XP_011514314.1:p.Lys653Asn
XM_011516013.1:c.1953G>T	XP_011514315.1:p.Lys651Asn
XM_011516014.1:c.1923G>T	XP_011514316.1:p.Lys641Asn
XM_011516015.1:c.1761G>T	XP_011514317.1:p.Lys587Asn
XM_011516016.1:c.1734G>T	XP_011514318.1:p.Lys578Asn
XM_011516017.1:c.1551G>T	XP_011514319.1:p.Lys517Asn
XM_011516018.1:c.1524G>T	XP_011514320.1:p.Lys508Asn
XM_005250257.2:c.651G>T	XP_005250314.1:p.Lys217Asn
XM_011516010.2:c.2025G>T	XP_011514312.1:p.Lys675Asn
XM_011516011.2:c.2022G>T	XP_011514313.1:p.Lys674Asn
XM_011516012.2:c.1959G>T	XP_011514314.1:p.Lys653Asn
XM_011516013.2:c.1953G>T	XP_011514315.1:p.Lys651Asn
XM_011516014.2:c.1923G>T	XP_011514316.1:p.Lys641Asn
XM_011516017.2:c.1551G>T	XP_011514319.1:p.Lys517Asn
XM_011516018.2:c.1524G>T	XP_011514320.1:p.Lys508Asn
XM_017011951.2:c.2025G>T	XP_016867440.1:p.Lys675Asn
NM_001127231.3:c.1932G>T	NP_001120703.1:p.Lys644Asn
NM_015570.4:c.2004G>T MANE Select	NP_056385.1:p.Lys668Asn