Canonical Allele Identifier: CA4280506

Gene: AUTS2

Linked Data

• dbSNP Id: rs762436605
• ExAC: 7:70228019 C / T
• gnomAD v2: 7-70228019-C-T
• gnomAD v3: 7-70763033-C-T
• gnomAD v4: 7-70763033-C-T
• COSMIC: COSM3381972
• MyVariant Identifiers: chr7:g.70228019C>T (hg19) ; chr7:g.70763033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70763033C>T , CM000669.2:g.70763033C>T	GRCh38
NC_000007.13:g.70228019C>T , CM000669.1:g.70228019C>T	GRCh37
NC_000007.12:g.69865955C>T	NCBI36
NG_034133.1:g.1169115C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.906C>T MANE Select	ENSP00000344087.4:p.Val302=
ENST00000443672.2:c.-197-3081C>T	ENSP00000393548.2:n.-197-3081C>T
ENST00000644359.1:c.-466C>T	ENSP00000494561.1:n.-466C>T
ENST00000644506.1:c.-466C>T	ENSP00000496672.1:n.-466C>T
ENST00000644939.1:c.906C>T	ENSP00000496726.1:p.Val302=
ENST00000656200.1:c.-469C>T	ENSP00000499508.1:n.-469C>T
ENST00000342771.8:c.906C>T	ENSP00000344087.4:p.Val302=
ENST00000406775.6:c.906C>T	ENSP00000385263.2:p.Val302=
ENST00000416482.1:c.247C>T
ENST00000611706.4:c.162C>T	ENSP00000478134.1:p.Val54=
ENST00000615871.4:c.162C>T	ENSP00000479325.1:p.Val54=
NM_001127231.2:c.906C>T	NP_001120703.1:p.Val302=
NM_015570.3:c.906C>T	NP_056385.1:p.Val302=
XM_011516010.1:c.906C>T	XP_011514312.1:p.Val302=
XM_011516011.1:c.906C>T	XP_011514313.1:p.Val302=
XM_011516012.1:c.906C>T	XP_011514314.1:p.Val302=
XM_011516013.1:c.906C>T	XP_011514315.1:p.Val302=
XM_011516014.1:c.906C>T	XP_011514316.1:p.Val302=
XM_011516015.1:c.906C>T	XP_011514317.1:p.Val302=
XM_011516016.1:c.615C>T	XP_011514318.1:p.Val205=
XM_011516017.1:c.432C>T	XP_011514319.1:p.Val144=
XM_011516018.1:c.405C>T	XP_011514320.1:p.Val135=
XM_011516010.2:c.906C>T	XP_011514312.1:p.Val302=
XM_011516011.2:c.906C>T	XP_011514313.1:p.Val302=
XM_011516012.2:c.906C>T	XP_011514314.1:p.Val302=
XM_011516013.2:c.906C>T	XP_011514315.1:p.Val302=
XM_011516014.2:c.906C>T	XP_011514316.1:p.Val302=
XM_011516017.2:c.432C>T	XP_011514319.1:p.Val144=
XM_011516018.2:c.405C>T	XP_011514320.1:p.Val135=
XM_017011951.2:c.906C>T	XP_016867440.1:p.Val302=
NM_001127231.3:c.906C>T	NP_001120703.1:p.Val302=
NM_015570.4:c.906C>T MANE Select	NP_056385.1:p.Val302=