Canonical Allele Identifier: CA455803108
Gene: AUTS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.70242097G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777111G>T , CM000669.2:g.70777111G>T GRCh38
NC_000007.13:g.70242097G>T , CM000669.1:g.70242097G>T GRCh37
NC_000007.12:g.69880033G>T NCBI36
NG_034133.1:g.1183193G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.9G>T ENSP00000514784.1:p.Gly3=
ENST00000342771.10:c.1941G>T MANE Select ENSP00000344087.4:p.Gly647=
ENST00000439256.2:c.39G>T ENSP00000407058.2:p.Gly13=
ENST00000443672.2:c.276G>T ENSP00000393548.2:p.Gly92=
ENST00000449547.6:c.34G>T
ENST00000464768.2:n.609G>T
ENST00000644359.1:c.522G>T ENSP00000494561.1:p.Gly174=
ENST00000644506.1:c.567G>T ENSP00000496672.1:p.Gly189=
ENST00000644939.1:c.1938G>T ENSP00000496726.1:p.Gly646=
ENST00000644949.1:c.272G>T
ENST00000646136.1:n.252G>T
ENST00000647140.1:c.806G>T
ENST00000342771.8:c.1941G>T ENSP00000344087.4:p.Gly647=
ENST00000406775.6:c.1869G>T ENSP00000385263.2:p.Gly623=
ENST00000439256.1:c.39G>T
ENST00000443672.1:c.521G>T
ENST00000464768.1:n.607G>T
ENST00000465899.1:n.438G>T
ENST00000498384.5:n.309G>T
ENST00000611706.4:c.1197G>T ENSP00000478134.1:p.Gly399=
ENST00000615871.4:c.1125G>T ENSP00000479325.1:p.Gly375=
NM_001127231.2:c.1869G>T NP_001120703.1:p.Gly623=
NM_015570.3:c.1941G>T NP_056385.1:p.Gly647=
XM_005250257.1:c.588G>T XP_005250314.1:p.Gly196=
XM_011516010.1:c.1962G>T XP_011514312.1:p.Gly654=
XM_011516011.1:c.1959G>T XP_011514313.1:p.Gly653=
XM_011516012.1:c.1896G>T XP_011514314.1:p.Gly632=
XM_011516013.1:c.1890G>T XP_011514315.1:p.Gly630=
XM_011516014.1:c.1860G>T XP_011514316.1:p.Gly620=
XM_011516015.1:c.1698G>T XP_011514317.1:p.Gly566=
XM_011516016.1:c.1671G>T XP_011514318.1:p.Gly557=
XM_011516017.1:c.1488G>T XP_011514319.1:p.Gly496=
XM_011516018.1:c.1461G>T XP_011514320.1:p.Gly487=
XM_005250257.2:c.588G>T XP_005250314.1:p.Gly196=
XM_011516010.2:c.1962G>T XP_011514312.1:p.Gly654=
XM_011516011.2:c.1959G>T XP_011514313.1:p.Gly653=
XM_011516012.2:c.1896G>T XP_011514314.1:p.Gly632=
XM_011516013.2:c.1890G>T XP_011514315.1:p.Gly630=
XM_011516014.2:c.1860G>T XP_011514316.1:p.Gly620=
XM_011516017.2:c.1488G>T XP_011514319.1:p.Gly496=
XM_011516018.2:c.1461G>T XP_011514320.1:p.Gly487=
XM_017011951.2:c.1962G>T XP_016867440.1:p.Gly654=
NM_001127231.3:c.1869G>T NP_001120703.1:p.Gly623=
NM_015570.4:c.1941G>T MANE Select NP_056385.1:p.Gly647=