Canonical Allele Identifier: CA367667225
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70762935A>T , CM000669.2:g.70762935A>T GRCh38
NC_000007.13:g.70227921A>T , CM000669.1:g.70227921A>T GRCh37
NC_000007.12:g.69865857A>T NCBI36
NG_034133.1:g.1169017A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342771.10:c.808A>T MANE Select ENSP00000344087.4:p.Lys270Ter
ENST00000443672.2:c.-197-3179A>T ENSP00000393548.2:n.-197-3179A>T
ENST00000644359.1:c.-564A>T ENSP00000494561.1:n.-564A>T
ENST00000644506.1:c.-564A>T ENSP00000496672.1:n.-564A>T
ENST00000644939.1:c.808A>T ENSP00000496726.1:p.Lys270Ter
ENST00000656200.1:c.-567A>T ENSP00000499508.1:n.-567A>T
ENST00000342771.8:c.808A>T ENSP00000344087.4:p.Lys270Ter
ENST00000406775.6:c.808A>T ENSP00000385263.2:p.Lys270Ter
ENST00000416482.1:c.149A>T
ENST00000611706.4:c.64A>T ENSP00000478134.1:p.Lys22Ter
ENST00000615871.4:c.64A>T ENSP00000479325.1:p.Lys22Ter
NM_001127231.2:c.808A>T NP_001120703.1:p.Lys270Ter
NM_015570.3:c.808A>T NP_056385.1:p.Lys270Ter
XM_011516010.1:c.808A>T XP_011514312.1:p.Lys270Ter
XM_011516011.1:c.808A>T XP_011514313.1:p.Lys270Ter
XM_011516012.1:c.808A>T XP_011514314.1:p.Lys270Ter
XM_011516013.1:c.808A>T XP_011514315.1:p.Lys270Ter
XM_011516014.1:c.808A>T XP_011514316.1:p.Lys270Ter
XM_011516015.1:c.808A>T XP_011514317.1:p.Lys270Ter
XM_011516016.1:c.517A>T XP_011514318.1:p.Lys173Ter
XM_011516017.1:c.334A>T XP_011514319.1:p.Lys112Ter
XM_011516018.1:c.307A>T XP_011514320.1:p.Lys103Ter
XM_011516010.2:c.808A>T XP_011514312.1:p.Lys270Ter
XM_011516011.2:c.808A>T XP_011514313.1:p.Lys270Ter
XM_011516012.2:c.808A>T XP_011514314.1:p.Lys270Ter
XM_011516013.2:c.808A>T XP_011514315.1:p.Lys270Ter
XM_011516014.2:c.808A>T XP_011514316.1:p.Lys270Ter
XM_011516017.2:c.334A>T XP_011514319.1:p.Lys112Ter
XM_011516018.2:c.307A>T XP_011514320.1:p.Lys103Ter
XM_017011951.2:c.808A>T XP_016867440.1:p.Lys270Ter
NM_001127231.3:c.808A>T NP_001120703.1:p.Lys270Ter
NM_015570.4:c.808A>T MANE Select NP_056385.1:p.Lys270Ter