Canonical Allele Identifier: CA160635813

Gene: AUTS2

Linked Data

• dbSNP Id: rs996604342
• gnomAD v2: 7-70045873-G-C
• gnomAD v3: 7-70580887-G-C
• gnomAD v4: 7-70580887-G-C
• MyVariant Identifiers: chr7:g.70045873G>C (hg19) ; chr7:g.70580887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70580887G>C , CM000669.2:g.70580887G>C	GRCh38
NC_000007.13:g.70045873G>C , CM000669.1:g.70045873G>C	GRCh37
NC_000007.12:g.69683809G>C	NCBI36
NG_034133.1:g.986969G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.691-117682G>C MANE Select	ENSP00000344087.4:n.691-117682G>C
ENST00000644939.1:c.691-117682G>C	ENSP00000496726.1:n.691-117682G>C
ENST00000342771.8:c.691-117682G>C	ENSP00000344087.4:n.691-117682G>C
ENST00000406775.6:c.691-117682G>C	ENSP00000385263.2:n.691-117682G>C
NM_001127231.2:c.691-117682G>C	NP_001120703.1:n.691-117682G>C
NM_015570.3:c.691-117682G>C	NP_056385.1:n.691-117682G>C
XM_011516010.1:c.691-117682G>C	XP_011514312.1:n.691-117682G>C
XM_011516011.1:c.691-117682G>C	XP_011514313.1:n.691-117682G>C
XM_011516012.1:c.691-117682G>C	XP_011514314.1:n.691-117682G>C
XM_011516013.1:c.691-117682G>C	XP_011514315.1:n.691-117682G>C
XM_011516014.1:c.691-117682G>C	XP_011514316.1:n.691-117682G>C
XM_011516015.1:c.691-117682G>C	XP_011514317.1:n.691-117682G>C
XM_011516016.1:c.400-117682G>C	XP_011514318.1:n.400-117682G>C
XM_011516017.1:c.217-117682G>C	XP_011514319.1:n.217-117682G>C
XM_011516018.1:c.190-117682G>C	XP_011514320.1:n.190-117682G>C
XM_011516010.2:c.691-117682G>C	XP_011514312.1:n.691-117682G>C
XM_011516011.2:c.691-117682G>C	XP_011514313.1:n.691-117682G>C
XM_011516012.2:c.691-117682G>C	XP_011514314.1:n.691-117682G>C
XM_011516013.2:c.691-117682G>C	XP_011514315.1:n.691-117682G>C
XM_011516014.2:c.691-117682G>C	XP_011514316.1:n.691-117682G>C
XM_011516017.2:c.217-117682G>C	XP_011514319.1:n.217-117682G>C
XM_011516018.2:c.190-117682G>C	XP_011514320.1:n.190-117682G>C
XM_017011951.2:c.691-117682G>C	XP_016867440.1:n.691-117682G>C
NM_001127231.3:c.691-117682G>C	NP_001120703.1:n.691-117682G>C
NM_015570.4:c.691-117682G>C MANE Select	NP_056385.1:n.691-117682G>C