Canonical Allele Identifier: CA367667642
Gene: AUTS2 HGNC NCBI

Linked Data

dbSNP Id: rs1312250907
gnomAD v3: 7-70763130-C-T
gnomAD v4: 7-70763130-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70763130C>T , CM000669.2:g.70763130C>T GRCh38
NC_000007.13:g.70228116C>T , CM000669.1:g.70228116C>T GRCh37
NC_000007.12:g.69866052C>T NCBI36
NG_034133.1:g.1169212C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342771.10:c.1003C>T MANE Select ENSP00000344087.4:p.Pro335Ser
ENST00000443672.2:c.-197-2984C>T ENSP00000393548.2:n.-197-2984C>T
ENST00000644359.1:c.-369C>T ENSP00000494561.1:n.-369C>T
ENST00000644506.1:c.-369C>T ENSP00000496672.1:n.-369C>T
ENST00000644939.1:c.1003C>T ENSP00000496726.1:p.Pro335Ser
ENST00000656200.1:c.-372C>T ENSP00000499508.1:n.-372C>T
ENST00000342771.8:c.1003C>T ENSP00000344087.4:p.Pro335Ser
ENST00000406775.6:c.1003C>T ENSP00000385263.2:p.Pro335Ser
ENST00000416482.1:c.344C>T
ENST00000611706.4:c.259C>T ENSP00000478134.1:p.Pro87Ser
ENST00000615871.4:c.259C>T ENSP00000479325.1:p.Pro87Ser
NM_001127231.2:c.1003C>T NP_001120703.1:p.Pro335Ser
NM_015570.3:c.1003C>T NP_056385.1:p.Pro335Ser
XM_011516010.1:c.1003C>T XP_011514312.1:p.Pro335Ser
XM_011516011.1:c.1003C>T XP_011514313.1:p.Pro335Ser
XM_011516012.1:c.1003C>T XP_011514314.1:p.Pro335Ser
XM_011516013.1:c.1003C>T XP_011514315.1:p.Pro335Ser
XM_011516014.1:c.1003C>T XP_011514316.1:p.Pro335Ser
XM_011516015.1:c.1003C>T XP_011514317.1:p.Pro335Ser
XM_011516016.1:c.712C>T XP_011514318.1:p.Pro238Ser
XM_011516017.1:c.529C>T XP_011514319.1:p.Pro177Ser
XM_011516018.1:c.502C>T XP_011514320.1:p.Pro168Ser
XM_011516010.2:c.1003C>T XP_011514312.1:p.Pro335Ser
XM_011516011.2:c.1003C>T XP_011514313.1:p.Pro335Ser
XM_011516012.2:c.1003C>T XP_011514314.1:p.Pro335Ser
XM_011516013.2:c.1003C>T XP_011514315.1:p.Pro335Ser
XM_011516014.2:c.1003C>T XP_011514316.1:p.Pro335Ser
XM_011516017.2:c.529C>T XP_011514319.1:p.Pro177Ser
XM_011516018.2:c.502C>T XP_011514320.1:p.Pro168Ser
XM_017011951.2:c.1003C>T XP_016867440.1:p.Pro335Ser
NM_001127231.3:c.1003C>T NP_001120703.1:p.Pro335Ser
NM_015570.4:c.1003C>T MANE Select NP_056385.1:p.Pro335Ser