Canonical Allele Identifier: CA16043617
Gene: AUTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374224
ClinVar RCV Id: RCV000415119
dbSNP Id: rs1057518986
MyVariant Identifiers: chr7:g.70231236C>G (hg19) chr7:g.70766250C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70766250C>G , CM000669.2:g.70766250C>G GRCh38
NC_000007.13:g.70231236C>G , CM000669.1:g.70231236C>G GRCh37
NC_000007.12:g.69869172C>G NCBI36
NG_034133.1:g.1172332C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342771.10:c.1605C>G MANE Select ENSP00000344087.4:p.His535Gln
ENST00000443672.2:c.-61C>G ENSP00000393548.2:n.-61C>G
ENST00000644359.1:c.231C>G ENSP00000494561.1:p.His77Gln
ENST00000644506.1:c.231C>G ENSP00000496672.1:p.His77Gln
ENST00000644939.1:c.1602C>G ENSP00000496726.1:p.His534Gln
ENST00000644949.1:c.17C>G
ENST00000647140.1:c.449C>G
ENST00000656200.1:c.231C>G ENSP00000499508.1:p.His77Gln
ENST00000342771.8:c.1605C>G ENSP00000344087.4:p.His535Gln
ENST00000406775.6:c.1605C>G ENSP00000385263.2:p.His535Gln
ENST00000443672.1:c.230C>G
ENST00000481994.1:n.212C>G
ENST00000611706.4:c.861C>G ENSP00000478134.1:p.His287Gln
ENST00000615871.4:c.861C>G ENSP00000479325.1:p.His287Gln
NM_001127231.2:c.1605C>G NP_001120703.1:p.His535Gln
NM_015570.3:c.1605C>G NP_056385.1:p.His535Gln
XM_005250257.1:c.231C>G XP_005250314.1:p.His77Gln
XM_011516010.1:c.1605C>G XP_011514312.1:p.His535Gln
XM_011516011.1:c.1602C>G XP_011514313.1:p.His534Gln
XM_011516012.1:c.1605C>G XP_011514314.1:p.His535Gln
XM_011516013.1:c.1605C>G XP_011514315.1:p.His535Gln
XM_011516014.1:c.1605C>G XP_011514316.1:p.His535Gln
XM_011516015.1:c.1605C>G XP_011514317.1:p.His535Gln
XM_011516016.1:c.1314C>G XP_011514318.1:p.His438Gln
XM_011516017.1:c.1131C>G XP_011514319.1:p.His377Gln
XM_011516018.1:c.1104C>G XP_011514320.1:p.His368Gln
XM_005250257.2:c.231C>G XP_005250314.1:p.His77Gln
XM_011516010.2:c.1605C>G XP_011514312.1:p.His535Gln
XM_011516011.2:c.1602C>G XP_011514313.1:p.His534Gln
XM_011516012.2:c.1605C>G XP_011514314.1:p.His535Gln
XM_011516013.2:c.1605C>G XP_011514315.1:p.His535Gln
XM_011516014.2:c.1605C>G XP_011514316.1:p.His535Gln
XM_011516017.2:c.1131C>G XP_011514319.1:p.His377Gln
XM_011516018.2:c.1104C>G XP_011514320.1:p.His368Gln
XM_017011951.2:c.1605C>G XP_016867440.1:p.His535Gln
NM_001127231.3:c.1605C>G NP_001120703.1:p.His535Gln
NM_015570.4:c.1605C>G MANE Select NP_056385.1:p.His535Gln
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