Canonical Allele Identifier: CA455803143
Gene: AUTS2 HGNC NCBI

Linked Data

gnomAD v4: 7-70777159-C-T
MyVariant Identifiers: chr7:g.70242145C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777159C>T , CM000669.2:g.70777159C>T GRCh38
NC_000007.13:g.70242145C>T , CM000669.1:g.70242145C>T GRCh37
NC_000007.12:g.69880081C>T NCBI36
NG_034133.1:g.1183241C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.57C>T ENSP00000514784.1:p.His19=
ENST00000342771.10:c.1989C>T MANE Select ENSP00000344087.4:p.His663=
ENST00000439256.2:c.87C>T ENSP00000407058.2:p.His29=
ENST00000443672.2:c.324C>T ENSP00000393548.2:p.His108=
ENST00000449547.6:c.82C>T
ENST00000464768.2:n.657C>T
ENST00000644359.1:c.570C>T ENSP00000494561.1:p.His190=
ENST00000644506.1:c.615C>T ENSP00000496672.1:p.His205=
ENST00000644939.1:c.1986C>T ENSP00000496726.1:p.His662=
ENST00000646136.1:n.300C>T
ENST00000647140.1:c.854C>T
ENST00000342771.8:c.1989C>T ENSP00000344087.4:p.His663=
ENST00000406775.6:c.1917C>T ENSP00000385263.2:p.His639=
ENST00000439256.1:c.87C>T
ENST00000464768.1:n.655C>T
ENST00000465899.1:n.486C>T
ENST00000498384.5:n.357C>T
ENST00000611706.4:c.1245C>T ENSP00000478134.1:p.His415=
ENST00000615871.4:c.1173C>T ENSP00000479325.1:p.His391=
NM_001127231.2:c.1917C>T NP_001120703.1:p.His639=
NM_015570.3:c.1989C>T NP_056385.1:p.His663=
XM_005250257.1:c.636C>T XP_005250314.1:p.His212=
XM_011516010.1:c.2010C>T XP_011514312.1:p.His670=
XM_011516011.1:c.2007C>T XP_011514313.1:p.His669=
XM_011516012.1:c.1944C>T XP_011514314.1:p.His648=
XM_011516013.1:c.1938C>T XP_011514315.1:p.His646=
XM_011516014.1:c.1908C>T XP_011514316.1:p.His636=
XM_011516015.1:c.1746C>T XP_011514317.1:p.His582=
XM_011516016.1:c.1719C>T XP_011514318.1:p.His573=
XM_011516017.1:c.1536C>T XP_011514319.1:p.His512=
XM_011516018.1:c.1509C>T XP_011514320.1:p.His503=
XM_005250257.2:c.636C>T XP_005250314.1:p.His212=
XM_011516010.2:c.2010C>T XP_011514312.1:p.His670=
XM_011516011.2:c.2007C>T XP_011514313.1:p.His669=
XM_011516012.2:c.1944C>T XP_011514314.1:p.His648=
XM_011516013.2:c.1938C>T XP_011514315.1:p.His646=
XM_011516014.2:c.1908C>T XP_011514316.1:p.His636=
XM_011516017.2:c.1536C>T XP_011514319.1:p.His512=
XM_011516018.2:c.1509C>T XP_011514320.1:p.His503=
XM_017011951.2:c.2010C>T XP_016867440.1:p.His670=
NM_001127231.3:c.1917C>T NP_001120703.1:p.His639=
NM_015570.4:c.1989C>T MANE Select NP_056385.1:p.His663=