Canonical Allele Identifier: CA4280878

Gene: AUTS2

Linked Data

• dbSNP Id: rs760234466
• ExAC: 7:70242203 T / C
• gnomAD v2: 7-70242203-T-C
• gnomAD v3: 7-70777217-T-C
• gnomAD v4: 7-70777217-T-C
• MyVariant Identifiers: chr7:g.70242203T>C (hg19) ; chr7:g.70242203_70242207delinsCGTGA (hg19) ; chr7:g.70777217T>C (hg38) ; chr7:g.70777217_70777221delinsCGTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777217T>C , CM000669.2:g.70777217T>C	GRCh38
NC_000007.13:g.70242203T>C , CM000669.1:g.70242203T>C	GRCh37
NC_000007.12:g.69880139T>C	NCBI36
NG_034133.1:g.1183299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.72+43T>C	ENSP00000514784.1:n.72+43T>C
ENST00000342771.10:c.2004+43T>C MANE Select	ENSP00000344087.4:n.2004+43T>C
ENST00000439256.2:c.145T>C	ENSP00000407058.2:n.145T>C
ENST00000443672.2:c.339+43T>C	ENSP00000393548.2:n.339+43T>C
ENST00000449547.6:c.97+43T>C
ENST00000464768.2:n.672+43T>C
ENST00000644359.1:c.585+43T>C	ENSP00000494561.1:n.585+43T>C
ENST00000644506.1:c.630+43T>C	ENSP00000496672.1:n.630+43T>C
ENST00000644939.1:c.2001+43T>C	ENSP00000496726.1:n.2001+43T>C
ENST00000646136.1:n.315+43T>C
ENST00000647140.1:c.869+43T>C
ENST00000342771.8:c.2004+43T>C	ENSP00000344087.4:n.2004+43T>C
ENST00000406775.6:c.1932+43T>C	ENSP00000385263.2:n.1932+43T>C
ENST00000439256.1:c.145T>C
ENST00000464768.1:n.670+43T>C
ENST00000465899.1:n.501+43T>C
ENST00000498384.5:n.372+43T>C
ENST00000611706.4:c.1260+43T>C	ENSP00000478134.1:n.1260+43T>C
ENST00000615871.4:c.1188+43T>C	ENSP00000479325.1:n.1188+43T>C
NM_001127231.2:c.1932+43T>C	NP_001120703.1:n.1932+43T>C
NM_015570.3:c.2004+43T>C	NP_056385.1:n.2004+43T>C
XM_005250257.1:c.651+43T>C	XP_005250314.1:n.651+43T>C
XM_011516010.1:c.2025+43T>C	XP_011514312.1:n.2025+43T>C
XM_011516011.1:c.2022+43T>C	XP_011514313.1:n.2022+43T>C
XM_011516012.1:c.1959+43T>C	XP_011514314.1:n.1959+43T>C
XM_011516013.1:c.1953+43T>C	XP_011514315.1:n.1953+43T>C
XM_011516014.1:c.1923+43T>C	XP_011514316.1:n.1923+43T>C
XM_011516015.1:c.1761+43T>C	XP_011514317.1:n.1761+43T>C
XM_011516016.1:c.1734+43T>C	XP_011514318.1:n.1734+43T>C
XM_011516017.1:c.1551+43T>C	XP_011514319.1:n.1551+43T>C
XM_011516018.1:c.1524+43T>C	XP_011514320.1:n.1524+43T>C
XM_005250257.2:c.651+43T>C	XP_005250314.1:n.651+43T>C
XM_011516010.2:c.2025+43T>C	XP_011514312.1:n.2025+43T>C
XM_011516011.2:c.2022+43T>C	XP_011514313.1:n.2022+43T>C
XM_011516012.2:c.1959+43T>C	XP_011514314.1:n.1959+43T>C
XM_011516013.2:c.1953+43T>C	XP_011514315.1:n.1953+43T>C
XM_011516014.2:c.1923+43T>C	XP_011514316.1:n.1923+43T>C
XM_011516017.2:c.1551+43T>C	XP_011514319.1:n.1551+43T>C
XM_011516018.2:c.1524+43T>C	XP_011514320.1:n.1524+43T>C
XM_017011951.2:c.2025+43T>C	XP_016867440.1:n.2025+43T>C
NM_001127231.3:c.1932+43T>C	NP_001120703.1:n.1932+43T>C
NM_015570.4:c.2004+43T>C MANE Select	NP_056385.1:n.2004+43T>C