Canonical Allele Identifier: CA575288429

Gene: AUTS2

Linked Data

• dbSNP Id: rs1320613071
• gnomAD v2: 7-70242057-C-T
• MyVariant Identifiers: chr7:g.70242057C>T (hg19) ; chr7:g.70777071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777071C>T , CM000669.2:g.70777071C>T	GRCh38
NC_000007.13:g.70242057C>T , CM000669.1:g.70242057C>T	GRCh37
NC_000007.12:g.69879993C>T	NCBI36
NG_034133.1:g.1183153C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.1933-32C>T MANE Select	ENSP00000344087.4:n.1933-32C>T
ENST00000439256.2:c.31-32C>T	ENSP00000407058.2:n.31-32C>T
ENST00000443672.2:c.268-32C>T	ENSP00000393548.2:n.268-32C>T
ENST00000449547.6:c.26-32C>T
ENST00000464768.2:n.601-32C>T
ENST00000644359.1:c.514-32C>T	ENSP00000494561.1:n.514-32C>T
ENST00000644506.1:c.559-32C>T	ENSP00000496672.1:n.559-32C>T
ENST00000644939.1:c.1930-32C>T	ENSP00000496726.1:n.1930-32C>T
ENST00000644949.1:c.264-32C>T
ENST00000646136.1:n.244-32C>T
ENST00000647140.1:c.798-32C>T
ENST00000342771.8:c.1933-32C>T	ENSP00000344087.4:n.1933-32C>T
ENST00000406775.6:c.1861-32C>T	ENSP00000385263.2:n.1861-32C>T
ENST00000439256.1:c.31-32C>T
ENST00000443672.1:c.513-32C>T
ENST00000464768.1:n.599-32C>T
ENST00000465899.1:n.398C>T
ENST00000498384.5:n.301-32C>T
ENST00000611706.4:c.1189-32C>T	ENSP00000478134.1:n.1189-32C>T
ENST00000615871.4:c.1117-32C>T	ENSP00000479325.1:n.1117-32C>T
NM_001127231.2:c.1861-32C>T	NP_001120703.1:n.1861-32C>T
NM_015570.3:c.1933-32C>T	NP_056385.1:n.1933-32C>T
XM_005250257.1:c.580-32C>T	XP_005250314.1:n.580-32C>T
XM_011516010.1:c.1954-32C>T	XP_011514312.1:n.1954-32C>T
XM_011516011.1:c.1951-32C>T	XP_011514313.1:n.1951-32C>T
XM_011516012.1:c.1888-32C>T	XP_011514314.1:n.1888-32C>T
XM_011516013.1:c.1882-32C>T	XP_011514315.1:n.1882-32C>T
XM_011516014.1:c.1852-32C>T	XP_011514316.1:n.1852-32C>T
XM_011516015.1:c.1690-32C>T	XP_011514317.1:n.1690-32C>T
XM_011516016.1:c.1663-32C>T	XP_011514318.1:n.1663-32C>T
XM_011516017.1:c.1480-32C>T	XP_011514319.1:n.1480-32C>T
XM_011516018.1:c.1453-32C>T	XP_011514320.1:n.1453-32C>T
XM_005250257.2:c.580-32C>T	XP_005250314.1:n.580-32C>T
XM_011516010.2:c.1954-32C>T	XP_011514312.1:n.1954-32C>T
XM_011516011.2:c.1951-32C>T	XP_011514313.1:n.1951-32C>T
XM_011516012.2:c.1888-32C>T	XP_011514314.1:n.1888-32C>T
XM_011516013.2:c.1882-32C>T	XP_011514315.1:n.1882-32C>T
XM_011516014.2:c.1852-32C>T	XP_011514316.1:n.1852-32C>T
XM_011516017.2:c.1480-32C>T	XP_011514319.1:n.1480-32C>T
XM_011516018.2:c.1453-32C>T	XP_011514320.1:n.1453-32C>T
XM_017011951.2:c.1954-32C>T	XP_016867440.1:n.1954-32C>T
NM_001127231.3:c.1861-32C>T	NP_001120703.1:n.1861-32C>T
NM_015570.4:c.1933-32C>T MANE Select	NP_056385.1:n.1933-32C>T