Canonical Allele Identifier: CA367664027
Community Standard Title: NM_015570.4(AUTS2):c.2411C>T (p.Pro804Leu)
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70787311C>T , CM000669.2:g.70787311C>T GRCh38
NC_000007.13:g.70252297C>T , CM000669.1:g.70252297C>T GRCh37
NC_000007.12:g.69890233C>T NCBI36
NG_034133.1:g.1193393C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015570.4:c.2411C>T MANE Select NP_056385.1:p.Pro804Leu
ENST00000342771.10:c.2411C>T MANE Select ENSP00000344087.4:p.Pro804Leu
NM_001127231.2:c.2339C>T NP_001120703.1:p.Pro780Leu
NM_001127231.3:c.2339C>T NP_001120703.1:p.Pro780Leu
NM_015570.3:c.2411C>T NP_056385.1:p.Pro804Leu
ENST00000342771.8:c.2411C>T ENSP00000344087.4:p.Pro804Leu
ENST00000406775.6:c.2339C>T ENSP00000385263.2:p.Pro780Leu
ENST00000418686.1:c.251C>T ENSP00000392333.1:p.Pro84Leu
ENST00000449547.5:c.328+174C>T
ENST00000449547.6:c.453+174C>T
ENST00000611706.4:c.1667C>T ENSP00000478134.1:p.Pro556Leu
ENST00000615871.4:c.1595C>T ENSP00000479325.1:p.Pro532Leu
ENST00000644359.1:c.992C>T ENSP00000494561.1:p.Pro331Leu
ENST00000644506.1:c.1037C>T ENSP00000496672.1:p.Pro346Leu
ENST00000644939.1:c.2408C>T ENSP00000496726.1:p.Pro803Leu
ENST00000646193.1:n.391C>T
ENST00000647140.1:c.1276C>T
ENST00000700075.1:c.337C>T ENSP00000514784.1:n.337C>T
XM_005250257.1:c.1058C>T XP_005250314.1:p.Pro353Leu
XM_005250257.2:c.1058C>T XP_005250314.1:p.Pro353Leu
XM_011516010.1:c.2432C>T XP_011514312.1:p.Pro811Leu
XM_011516010.2:c.2432C>T XP_011514312.1:p.Pro811Leu
XM_011516011.1:c.2429C>T XP_011514313.1:p.Pro810Leu
XM_011516011.2:c.2429C>T XP_011514313.1:p.Pro810Leu
XM_011516012.1:c.2366C>T XP_011514314.1:p.Pro789Leu
XM_011516012.2:c.2366C>T XP_011514314.1:p.Pro789Leu
XM_011516013.1:c.2360C>T XP_011514315.1:p.Pro787Leu
XM_011516013.2:c.2360C>T XP_011514315.1:p.Pro787Leu
XM_011516014.1:c.2330C>T XP_011514316.1:p.Pro777Leu
XM_011516014.2:c.2330C>T XP_011514316.1:p.Pro777Leu
XM_011516015.1:c.2168C>T XP_011514317.1:p.Pro723Leu
XM_011516016.1:c.2141C>T XP_011514318.1:p.Pro714Leu
XM_011516017.1:c.1958C>T XP_011514319.1:p.Pro653Leu
XM_011516017.2:c.1958C>T XP_011514319.1:p.Pro653Leu
XM_011516018.1:c.1931C>T XP_011514320.1:p.Pro644Leu
XM_011516018.2:c.1931C>T XP_011514320.1:p.Pro644Leu
XM_017011951.2:c.*26+174C>T XP_016867440.1:n.*26+174C>T