Canonical Allele Identifier: CA455803104
Gene: AUTS2 HGNC NCBI

Linked Data

gnomAD v4: 7-70777108-A-C
MyVariant Identifiers: chr7:g.70242094A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777108A>C , CM000669.2:g.70777108A>C GRCh38
NC_000007.13:g.70242094A>C , CM000669.1:g.70242094A>C GRCh37
NC_000007.12:g.69880030A>C NCBI36
NG_034133.1:g.1183190A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.6A>C ENSP00000514784.1:p.Pro2=
ENST00000342771.10:c.1938A>C MANE Select ENSP00000344087.4:p.Pro646=
ENST00000439256.2:c.36A>C ENSP00000407058.2:p.Pro12=
ENST00000443672.2:c.273A>C ENSP00000393548.2:p.Pro91=
ENST00000449547.6:c.31A>C
ENST00000464768.2:n.606A>C
ENST00000644359.1:c.519A>C ENSP00000494561.1:p.Pro173=
ENST00000644506.1:c.564A>C ENSP00000496672.1:p.Pro188=
ENST00000644939.1:c.1935A>C ENSP00000496726.1:p.Pro645=
ENST00000644949.1:c.269A>C
ENST00000646136.1:n.249A>C
ENST00000647140.1:c.803A>C
ENST00000342771.8:c.1938A>C ENSP00000344087.4:p.Pro646=
ENST00000406775.6:c.1866A>C ENSP00000385263.2:p.Pro622=
ENST00000439256.1:c.36A>C
ENST00000443672.1:c.518A>C
ENST00000464768.1:n.604A>C
ENST00000465899.1:n.435A>C
ENST00000498384.5:n.306A>C
ENST00000611706.4:c.1194A>C ENSP00000478134.1:p.Pro398=
ENST00000615871.4:c.1122A>C ENSP00000479325.1:p.Pro374=
NM_001127231.2:c.1866A>C NP_001120703.1:p.Pro622=
NM_015570.3:c.1938A>C NP_056385.1:p.Pro646=
XM_005250257.1:c.585A>C XP_005250314.1:p.Pro195=
XM_011516010.1:c.1959A>C XP_011514312.1:p.Pro653=
XM_011516011.1:c.1956A>C XP_011514313.1:p.Pro652=
XM_011516012.1:c.1893A>C XP_011514314.1:p.Pro631=
XM_011516013.1:c.1887A>C XP_011514315.1:p.Pro629=
XM_011516014.1:c.1857A>C XP_011514316.1:p.Pro619=
XM_011516015.1:c.1695A>C XP_011514317.1:p.Pro565=
XM_011516016.1:c.1668A>C XP_011514318.1:p.Pro556=
XM_011516017.1:c.1485A>C XP_011514319.1:p.Pro495=
XM_011516018.1:c.1458A>C XP_011514320.1:p.Pro486=
XM_005250257.2:c.585A>C XP_005250314.1:p.Pro195=
XM_011516010.2:c.1959A>C XP_011514312.1:p.Pro653=
XM_011516011.2:c.1956A>C XP_011514313.1:p.Pro652=
XM_011516012.2:c.1893A>C XP_011514314.1:p.Pro631=
XM_011516013.2:c.1887A>C XP_011514315.1:p.Pro629=
XM_011516014.2:c.1857A>C XP_011514316.1:p.Pro619=
XM_011516017.2:c.1485A>C XP_011514319.1:p.Pro495=
XM_011516018.2:c.1458A>C XP_011514320.1:p.Pro486=
XM_017011951.2:c.1959A>C XP_016867440.1:p.Pro653=
NM_001127231.3:c.1866A>C NP_001120703.1:p.Pro622=
NM_015570.4:c.1938A>C MANE Select NP_056385.1:p.Pro646=