Canonical Allele Identifier: CA455803121

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70777123-T-C
• MyVariant Identifiers: chr7:g.70242109T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777123T>C , CM000669.2:g.70777123T>C	GRCh38
NC_000007.13:g.70242109T>C , CM000669.1:g.70242109T>C	GRCh37
NC_000007.12:g.69880045T>C	NCBI36
NG_034133.1:g.1183205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.21T>C	ENSP00000514784.1:p.Ala7=
ENST00000342771.10:c.1953T>C MANE Select	ENSP00000344087.4:p.Ala651=
ENST00000439256.2:c.51T>C	ENSP00000407058.2:p.Ala17=
ENST00000443672.2:c.288T>C	ENSP00000393548.2:p.Ala96=
ENST00000449547.6:c.46T>C
ENST00000464768.2:n.621T>C
ENST00000644359.1:c.534T>C	ENSP00000494561.1:p.Ala178=
ENST00000644506.1:c.579T>C	ENSP00000496672.1:p.Ala193=
ENST00000644939.1:c.1950T>C	ENSP00000496726.1:p.Ala650=
ENST00000644949.1:c.284T>C
ENST00000646136.1:n.264T>C
ENST00000647140.1:c.818T>C
ENST00000342771.8:c.1953T>C	ENSP00000344087.4:p.Ala651=
ENST00000406775.6:c.1881T>C	ENSP00000385263.2:p.Ala627=
ENST00000439256.1:c.51T>C
ENST00000443672.1:c.533T>C
ENST00000464768.1:n.619T>C
ENST00000465899.1:n.450T>C
ENST00000498384.5:n.321T>C
ENST00000611706.4:c.1209T>C	ENSP00000478134.1:p.Ala403=
ENST00000615871.4:c.1137T>C	ENSP00000479325.1:p.Ala379=
NM_001127231.2:c.1881T>C	NP_001120703.1:p.Ala627=
NM_015570.3:c.1953T>C	NP_056385.1:p.Ala651=
XM_005250257.1:c.600T>C	XP_005250314.1:p.Ala200=
XM_011516010.1:c.1974T>C	XP_011514312.1:p.Ala658=
XM_011516011.1:c.1971T>C	XP_011514313.1:p.Ala657=
XM_011516012.1:c.1908T>C	XP_011514314.1:p.Ala636=
XM_011516013.1:c.1902T>C	XP_011514315.1:p.Ala634=
XM_011516014.1:c.1872T>C	XP_011514316.1:p.Ala624=
XM_011516015.1:c.1710T>C	XP_011514317.1:p.Ala570=
XM_011516016.1:c.1683T>C	XP_011514318.1:p.Ala561=
XM_011516017.1:c.1500T>C	XP_011514319.1:p.Ala500=
XM_011516018.1:c.1473T>C	XP_011514320.1:p.Ala491=
XM_005250257.2:c.600T>C	XP_005250314.1:p.Ala200=
XM_011516010.2:c.1974T>C	XP_011514312.1:p.Ala658=
XM_011516011.2:c.1971T>C	XP_011514313.1:p.Ala657=
XM_011516012.2:c.1908T>C	XP_011514314.1:p.Ala636=
XM_011516013.2:c.1902T>C	XP_011514315.1:p.Ala634=
XM_011516014.2:c.1872T>C	XP_011514316.1:p.Ala624=
XM_011516017.2:c.1500T>C	XP_011514319.1:p.Ala500=
XM_011516018.2:c.1473T>C	XP_011514320.1:p.Ala491=
XM_017011951.2:c.1974T>C	XP_016867440.1:p.Ala658=
NM_001127231.3:c.1881T>C	NP_001120703.1:p.Ala627=
NM_015570.4:c.1953T>C MANE Select	NP_056385.1:p.Ala651=