Canonical Allele Identifier: CA367669873

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242156T>C (hg19) ; chr7:g.70777170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777170T>C , CM000669.2:g.70777170T>C	GRCh38
NC_000007.13:g.70242156T>C , CM000669.1:g.70242156T>C	GRCh37
NC_000007.12:g.69880092T>C	NCBI36
NG_034133.1:g.1183252T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.68T>C	ENSP00000514784.1:p.Val23Ala
ENST00000342771.10:c.2000T>C MANE Select	ENSP00000344087.4:p.Val667Ala
ENST00000439256.2:c.98T>C	ENSP00000407058.2:p.Val33Ala
ENST00000443672.2:c.335T>C	ENSP00000393548.2:p.Val112Ala
ENST00000449547.6:c.93T>C
ENST00000464768.2:n.668T>C
ENST00000644359.1:c.581T>C	ENSP00000494561.1:p.Val194Ala
ENST00000644506.1:c.626T>C	ENSP00000496672.1:p.Val209Ala
ENST00000644939.1:c.1997T>C	ENSP00000496726.1:p.Val666Ala
ENST00000646136.1:n.311T>C
ENST00000647140.1:c.865T>C
ENST00000342771.8:c.2000T>C	ENSP00000344087.4:p.Val667Ala
ENST00000406775.6:c.1928T>C	ENSP00000385263.2:p.Val643Ala
ENST00000439256.1:c.98T>C
ENST00000464768.1:n.666T>C
ENST00000465899.1:n.497T>C
ENST00000498384.5:n.368T>C
ENST00000611706.4:c.1256T>C	ENSP00000478134.1:p.Val419Ala
ENST00000615871.4:c.1184T>C	ENSP00000479325.1:p.Val395Ala
NM_001127231.2:c.1928T>C	NP_001120703.1:p.Val643Ala
NM_015570.3:c.2000T>C	NP_056385.1:p.Val667Ala
XM_005250257.1:c.647T>C	XP_005250314.1:p.Val216Ala
XM_011516010.1:c.2021T>C	XP_011514312.1:p.Val674Ala
XM_011516011.1:c.2018T>C	XP_011514313.1:p.Val673Ala
XM_011516012.1:c.1955T>C	XP_011514314.1:p.Val652Ala
XM_011516013.1:c.1949T>C	XP_011514315.1:p.Val650Ala
XM_011516014.1:c.1919T>C	XP_011514316.1:p.Val640Ala
XM_011516015.1:c.1757T>C	XP_011514317.1:p.Val586Ala
XM_011516016.1:c.1730T>C	XP_011514318.1:p.Val577Ala
XM_011516017.1:c.1547T>C	XP_011514319.1:p.Val516Ala
XM_011516018.1:c.1520T>C	XP_011514320.1:p.Val507Ala
XM_005250257.2:c.647T>C	XP_005250314.1:p.Val216Ala
XM_011516010.2:c.2021T>C	XP_011514312.1:p.Val674Ala
XM_011516011.2:c.2018T>C	XP_011514313.1:p.Val673Ala
XM_011516012.2:c.1955T>C	XP_011514314.1:p.Val652Ala
XM_011516013.2:c.1949T>C	XP_011514315.1:p.Val650Ala
XM_011516014.2:c.1919T>C	XP_011514316.1:p.Val640Ala
XM_011516017.2:c.1547T>C	XP_011514319.1:p.Val516Ala
XM_011516018.2:c.1520T>C	XP_011514320.1:p.Val507Ala
XM_017011951.2:c.2021T>C	XP_016867440.1:p.Val674Ala
NM_001127231.3:c.1928T>C	NP_001120703.1:p.Val643Ala
NM_015570.4:c.2000T>C MANE Select	NP_056385.1:p.Val667Ala