Canonical Allele Identifier: CA367702947

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 2876995
• ClinVar RCV Id: RCV003712634
• dbSNP Id: rs775225727
• gnomAD v2: 7-69064788-C-T
• gnomAD v4: 7-69599802-C-T
• MyVariant Identifiers: chr7:g.69064788C>T (hg19) ; chr7:g.69599802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69599802C>T , CM000669.2:g.69599802C>T	GRCh38
NC_000007.13:g.69064788C>T , CM000669.1:g.69064788C>T	GRCh37
NC_000007.12:g.68702724C>T	NCBI36
NG_034133.1:g.5884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.149C>T MANE Select	ENSP00000344087.4:p.Ser50Leu
ENST00000403018.3:c.149C>T	ENSP00000385572.2:p.Ser50Leu
ENST00000644939.1:c.149C>T	ENSP00000496726.1:p.Ser50Leu
ENST00000342771.8:c.149C>T	ENSP00000344087.4:p.Ser50Leu
ENST00000403018.2:c.149C>T	ENSP00000385572.2:p.Ser50Leu
ENST00000406775.6:c.149C>T	ENSP00000385263.2:p.Ser50Leu
NM_001127231.2:c.149C>T	NP_001120703.1:p.Ser50Leu
NM_001127232.2:c.149C>T	NP_001120704.1:p.Ser50Leu
NM_015570.3:c.149C>T	NP_056385.1:p.Ser50Leu
XM_011516010.1:c.149C>T	XP_011514312.1:p.Ser50Leu
XM_011516011.1:c.149C>T	XP_011514313.1:p.Ser50Leu
XM_011516012.1:c.149C>T	XP_011514314.1:p.Ser50Leu
XM_011516013.1:c.149C>T	XP_011514315.1:p.Ser50Leu
XM_011516014.1:c.149C>T	XP_011514316.1:p.Ser50Leu
XM_011516015.1:c.149C>T	XP_011514317.1:p.Ser50Leu
XM_011516010.2:c.149C>T	XP_011514312.1:p.Ser50Leu
XM_011516011.2:c.149C>T	XP_011514313.1:p.Ser50Leu
XM_011516012.2:c.149C>T	XP_011514314.1:p.Ser50Leu
XM_011516013.2:c.149C>T	XP_011514315.1:p.Ser50Leu
XM_011516014.2:c.149C>T	XP_011514316.1:p.Ser50Leu
XM_017011951.2:c.149C>T	XP_016867440.1:p.Ser50Leu
NM_001127231.3:c.149C>T	NP_001120703.1:p.Ser50Leu
NM_001127232.3:c.149C>T	NP_001120704.1:p.Ser50Leu
NM_015570.4:c.149C>T MANE Select	NP_056385.1:p.Ser50Leu