Canonical Allele Identifier: CA160618301

Gene: AUTS2

Linked Data

• dbSNP Id: rs188365679
• gnomAD v2: 7-69887139-T-A
• gnomAD v3: 7-70422153-T-A
• gnomAD v4: 7-70422153-T-A
• MyVariant Identifiers: chr7:g.69887139T>A (hg19) ; chr7:g.70422153T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70422153T>A , CM000669.2:g.70422153T>A	GRCh38
NC_000007.13:g.69887139T>A , CM000669.1:g.69887139T>A	GRCh37
NC_000007.12:g.69525075T>A	NCBI36
NG_034133.1:g.828235T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.661-13599T>A MANE Select	ENSP00000344087.4:n.661-13599T>A
ENST00000475660.2:n.132-13599T>A
ENST00000643060.1:n.17-13599T>A
ENST00000644939.1:c.661-13599T>A	ENSP00000496726.1:n.661-13599T>A
ENST00000342771.8:c.661-13599T>A	ENSP00000344087.4:n.661-13599T>A
ENST00000406775.6:c.661-13599T>A	ENSP00000385263.2:n.661-13599T>A
ENST00000475660.1:n.132-13599T>A
NM_001127231.2:c.661-13599T>A	NP_001120703.1:n.661-13599T>A
NM_015570.3:c.661-13599T>A	NP_056385.1:n.661-13599T>A
XM_011516010.1:c.661-13599T>A	XP_011514312.1:n.661-13599T>A
XM_011516011.1:c.661-13599T>A	XP_011514313.1:n.661-13599T>A
XM_011516012.1:c.661-13599T>A	XP_011514314.1:n.661-13599T>A
XM_011516013.1:c.661-13599T>A	XP_011514315.1:n.661-13599T>A
XM_011516014.1:c.661-13599T>A	XP_011514316.1:n.661-13599T>A
XM_011516015.1:c.661-13599T>A	XP_011514317.1:n.661-13599T>A
XM_011516016.1:c.370-13599T>A	XP_011514318.1:n.370-13599T>A
XM_011516017.1:c.187-13599T>A	XP_011514319.1:n.187-13599T>A
XM_011516018.1:c.160-13599T>A	XP_011514320.1:n.160-13599T>A
XM_011516010.2:c.661-13599T>A	XP_011514312.1:n.661-13599T>A
XM_011516011.2:c.661-13599T>A	XP_011514313.1:n.661-13599T>A
XM_011516012.2:c.661-13599T>A	XP_011514314.1:n.661-13599T>A
XM_011516013.2:c.661-13599T>A	XP_011514315.1:n.661-13599T>A
XM_011516014.2:c.661-13599T>A	XP_011514316.1:n.661-13599T>A
XM_011516017.2:c.187-13599T>A	XP_011514319.1:n.187-13599T>A
XM_011516018.2:c.160-13599T>A	XP_011514320.1:n.160-13599T>A
XM_017011951.2:c.661-13599T>A	XP_016867440.1:n.661-13599T>A
NM_001127231.3:c.661-13599T>A	NP_001120703.1:n.661-13599T>A
NM_015570.4:c.661-13599T>A MANE Select	NP_056385.1:n.661-13599T>A