Canonical Allele Identifier: CA367703631

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 2444256
• ClinVar RCV Id: RCV003153054
• COSMIC: COSM4495498 ; COSM4495499
• MyVariant Identifiers: chr7:g.69364416C>T (hg19) ; chr7:g.69899430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69899430C>T , CM000669.2:g.69899430C>T	GRCh38
NC_000007.13:g.69364416C>T , CM000669.1:g.69364416C>T	GRCh37
NC_000007.12:g.69002352C>T	NCBI36
NG_034133.1:g.305512C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.454C>T MANE Select	ENSP00000344087.4:p.Arg152Ter
ENST00000403018.3:c.454C>T	ENSP00000385572.2:p.Arg152Ter
ENST00000476695.2:n.309C>T
ENST00000643587.1:c.-48C>T	ENSP00000494680.1:n.-48C>T
ENST00000643936.1:c.233C>T
ENST00000644939.1:c.454C>T	ENSP00000496726.1:p.Arg152Ter
ENST00000656998.1:c.145C>T	ENSP00000499769.1:p.Arg49Ter
ENST00000342771.8:c.454C>T	ENSP00000344087.4:p.Arg152Ter
ENST00000403018.2:c.454C>T	ENSP00000385572.2:p.Arg152Ter
ENST00000406775.6:c.454C>T	ENSP00000385263.2:p.Arg152Ter
ENST00000476695.1:n.303C>T
NM_001127231.2:c.454C>T	NP_001120703.1:p.Arg152Ter
NM_001127232.2:c.454C>T	NP_001120704.1:p.Arg152Ter
NM_015570.3:c.454C>T	NP_056385.1:p.Arg152Ter
XM_011516010.1:c.454C>T	XP_011514312.1:p.Arg152Ter
XM_011516011.1:c.454C>T	XP_011514313.1:p.Arg152Ter
XM_011516012.1:c.454C>T	XP_011514314.1:p.Arg152Ter
XM_011516013.1:c.454C>T	XP_011514315.1:p.Arg152Ter
XM_011516014.1:c.454C>T	XP_011514316.1:p.Arg152Ter
XM_011516015.1:c.454C>T	XP_011514317.1:p.Arg152Ter
XM_011516016.1:c.163C>T	XP_011514318.1:p.Arg55Ter
XM_011516018.1:c.-48C>T	XP_011514320.1:n.-48C>T
XM_011516010.2:c.454C>T	XP_011514312.1:p.Arg152Ter
XM_011516011.2:c.454C>T	XP_011514313.1:p.Arg152Ter
XM_011516012.2:c.454C>T	XP_011514314.1:p.Arg152Ter
XM_011516013.2:c.454C>T	XP_011514315.1:p.Arg152Ter
XM_011516014.2:c.454C>T	XP_011514316.1:p.Arg152Ter
XM_011516018.2:c.-48C>T	XP_011514320.1:n.-48C>T
XM_017011951.2:c.454C>T	XP_016867440.1:p.Arg152Ter
NM_001127231.3:c.454C>T	NP_001120703.1:p.Arg152Ter
NM_001127232.3:c.454C>T	NP_001120704.1:p.Arg152Ter
NM_015570.4:c.454C>T MANE Select	NP_056385.1:p.Arg152Ter