Canonical Allele Identifier: CA160034092

Gene: AUTS2

Linked Data

• dbSNP Id: rs983596317
• gnomAD v4: 7-70776980-A-C
• MyVariant Identifiers: chr7:g.70241966A>C (hg19) ; chr7:g.70776980A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70776980A>C , CM000669.2:g.70776980A>C	GRCh38
NC_000007.13:g.70241966A>C , CM000669.1:g.70241966A>C	GRCh37
NC_000007.12:g.69879902A>C	NCBI36
NG_034133.1:g.1183062A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.1933-123A>C MANE Select	ENSP00000344087.4:n.1933-123A>C
ENST00000439256.2:c.31-123A>C	ENSP00000407058.2:n.31-123A>C
ENST00000443672.2:c.268-123A>C	ENSP00000393548.2:n.268-123A>C
ENST00000449547.6:c.26-123A>C
ENST00000464768.2:n.601-123A>C
ENST00000644359.1:c.514-123A>C	ENSP00000494561.1:n.514-123A>C
ENST00000644506.1:c.559-123A>C	ENSP00000496672.1:n.559-123A>C
ENST00000644939.1:c.1930-123A>C	ENSP00000496726.1:n.1930-123A>C
ENST00000644949.1:c.264-123A>C
ENST00000646136.1:n.244-123A>C
ENST00000647140.1:c.798-123A>C
ENST00000342771.8:c.1933-123A>C	ENSP00000344087.4:n.1933-123A>C
ENST00000406775.6:c.1861-123A>C	ENSP00000385263.2:n.1861-123A>C
ENST00000439256.1:c.31-123A>C
ENST00000443672.1:c.513-123A>C
ENST00000464768.1:n.599-123A>C
ENST00000465899.1:n.307A>C
ENST00000498384.5:n.301-123A>C
ENST00000611706.4:c.1189-123A>C	ENSP00000478134.1:n.1189-123A>C
ENST00000615871.4:c.1117-123A>C	ENSP00000479325.1:n.1117-123A>C
NM_001127231.2:c.1861-123A>C	NP_001120703.1:n.1861-123A>C
NM_015570.3:c.1933-123A>C	NP_056385.1:n.1933-123A>C
XM_005250257.1:c.580-123A>C	XP_005250314.1:n.580-123A>C
XM_011516010.1:c.1954-123A>C	XP_011514312.1:n.1954-123A>C
XM_011516011.1:c.1951-123A>C	XP_011514313.1:n.1951-123A>C
XM_011516012.1:c.1888-123A>C	XP_011514314.1:n.1888-123A>C
XM_011516013.1:c.1882-123A>C	XP_011514315.1:n.1882-123A>C
XM_011516014.1:c.1852-123A>C	XP_011514316.1:n.1852-123A>C
XM_011516015.1:c.1690-123A>C	XP_011514317.1:n.1690-123A>C
XM_011516016.1:c.1663-123A>C	XP_011514318.1:n.1663-123A>C
XM_011516017.1:c.1480-123A>C	XP_011514319.1:n.1480-123A>C
XM_011516018.1:c.1453-123A>C	XP_011514320.1:n.1453-123A>C
XM_005250257.2:c.580-123A>C	XP_005250314.1:n.580-123A>C
XM_011516010.2:c.1954-123A>C	XP_011514312.1:n.1954-123A>C
XM_011516011.2:c.1951-123A>C	XP_011514313.1:n.1951-123A>C
XM_011516012.2:c.1888-123A>C	XP_011514314.1:n.1888-123A>C
XM_011516013.2:c.1882-123A>C	XP_011514315.1:n.1882-123A>C
XM_011516014.2:c.1852-123A>C	XP_011514316.1:n.1852-123A>C
XM_011516017.2:c.1480-123A>C	XP_011514319.1:n.1480-123A>C
XM_011516018.2:c.1453-123A>C	XP_011514320.1:n.1453-123A>C
XM_017011951.2:c.1954-123A>C	XP_016867440.1:n.1954-123A>C
NM_001127231.3:c.1861-123A>C	NP_001120703.1:n.1861-123A>C
NM_015570.4:c.1933-123A>C MANE Select	NP_056385.1:n.1933-123A>C