Canonical Allele Identifier: CA367667520

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 2429962
• ClinVar RCV Id: RCV003127401 ; RCV003395701
• MyVariant Identifiers: chr7:g.70228053C>T (hg19) ; chr7:g.70763067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70763067C>T , CM000669.2:g.70763067C>T	GRCh38
NC_000007.13:g.70228053C>T , CM000669.1:g.70228053C>T	GRCh37
NC_000007.12:g.69865989C>T	NCBI36
NG_034133.1:g.1169149C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.940C>T MANE Select	ENSP00000344087.4:p.Gln314Ter
ENST00000443672.2:c.-197-3047C>T	ENSP00000393548.2:n.-197-3047C>T
ENST00000644359.1:c.-432C>T	ENSP00000494561.1:n.-432C>T
ENST00000644506.1:c.-432C>T	ENSP00000496672.1:n.-432C>T
ENST00000644939.1:c.940C>T	ENSP00000496726.1:p.Gln314Ter
ENST00000656200.1:c.-435C>T	ENSP00000499508.1:n.-435C>T
ENST00000342771.8:c.940C>T	ENSP00000344087.4:p.Gln314Ter
ENST00000406775.6:c.940C>T	ENSP00000385263.2:p.Gln314Ter
ENST00000416482.1:c.281C>T
ENST00000611706.4:c.196C>T	ENSP00000478134.1:p.Gln66Ter
ENST00000615871.4:c.196C>T	ENSP00000479325.1:p.Gln66Ter
NM_001127231.2:c.940C>T	NP_001120703.1:p.Gln314Ter
NM_015570.3:c.940C>T	NP_056385.1:p.Gln314Ter
XM_011516010.1:c.940C>T	XP_011514312.1:p.Gln314Ter
XM_011516011.1:c.940C>T	XP_011514313.1:p.Gln314Ter
XM_011516012.1:c.940C>T	XP_011514314.1:p.Gln314Ter
XM_011516013.1:c.940C>T	XP_011514315.1:p.Gln314Ter
XM_011516014.1:c.940C>T	XP_011514316.1:p.Gln314Ter
XM_011516015.1:c.940C>T	XP_011514317.1:p.Gln314Ter
XM_011516016.1:c.649C>T	XP_011514318.1:p.Gln217Ter
XM_011516017.1:c.466C>T	XP_011514319.1:p.Gln156Ter
XM_011516018.1:c.439C>T	XP_011514320.1:p.Gln147Ter
XM_011516010.2:c.940C>T	XP_011514312.1:p.Gln314Ter
XM_011516011.2:c.940C>T	XP_011514313.1:p.Gln314Ter
XM_011516012.2:c.940C>T	XP_011514314.1:p.Gln314Ter
XM_011516013.2:c.940C>T	XP_011514315.1:p.Gln314Ter
XM_011516014.2:c.940C>T	XP_011514316.1:p.Gln314Ter
XM_011516017.2:c.466C>T	XP_011514319.1:p.Gln156Ter
XM_011516018.2:c.439C>T	XP_011514320.1:p.Gln147Ter
XM_017011951.2:c.940C>T	XP_016867440.1:p.Gln314Ter
NM_001127231.3:c.940C>T	NP_001120703.1:p.Gln314Ter
NM_015570.4:c.940C>T MANE Select	NP_056385.1:p.Gln314Ter