Canonical Allele Identifier: CA16618553
Gene: AUTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421944
ClinVar RCV Id: RCV000486237
dbSNP Id: rs1064795461
MyVariant Identifiers: chr7:g.70231229A>T (hg19) chr7:g.70766243A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70766243A>T , CM000669.2:g.70766243A>T GRCh38
NC_000007.13:g.70231229A>T , CM000669.1:g.70231229A>T GRCh37
NC_000007.12:g.69869165A>T NCBI36
NG_034133.1:g.1172325A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342771.10:c.1598A>T MANE Select ENSP00000344087.4:p.His533Leu
ENST00000443672.2:c.-68A>T ENSP00000393548.2:n.-68A>T
ENST00000644359.1:c.224A>T ENSP00000494561.1:p.His75Leu
ENST00000644506.1:c.224A>T ENSP00000496672.1:p.His75Leu
ENST00000644939.1:c.1595A>T ENSP00000496726.1:p.His532Leu
ENST00000644949.1:c.10A>T
ENST00000647140.1:c.442A>T
ENST00000656200.1:c.224A>T ENSP00000499508.1:p.His75Leu
ENST00000342771.8:c.1598A>T ENSP00000344087.4:p.His533Leu
ENST00000406775.6:c.1598A>T ENSP00000385263.2:p.His533Leu
ENST00000443672.1:c.223A>T
ENST00000481994.1:n.205A>T
ENST00000611706.4:c.854A>T ENSP00000478134.1:p.His285Leu
ENST00000615871.4:c.854A>T ENSP00000479325.1:p.His285Leu
NM_001127231.2:c.1598A>T NP_001120703.1:p.His533Leu
NM_015570.3:c.1598A>T NP_056385.1:p.His533Leu
XM_005250257.1:c.224A>T XP_005250314.1:p.His75Leu
XM_011516010.1:c.1598A>T XP_011514312.1:p.His533Leu
XM_011516011.1:c.1595A>T XP_011514313.1:p.His532Leu
XM_011516012.1:c.1598A>T XP_011514314.1:p.His533Leu
XM_011516013.1:c.1598A>T XP_011514315.1:p.His533Leu
XM_011516014.1:c.1598A>T XP_011514316.1:p.His533Leu
XM_011516015.1:c.1598A>T XP_011514317.1:p.His533Leu
XM_011516016.1:c.1307A>T XP_011514318.1:p.His436Leu
XM_011516017.1:c.1124A>T XP_011514319.1:p.His375Leu
XM_011516018.1:c.1097A>T XP_011514320.1:p.His366Leu
XM_005250257.2:c.224A>T XP_005250314.1:p.His75Leu
XM_011516010.2:c.1598A>T XP_011514312.1:p.His533Leu
XM_011516011.2:c.1595A>T XP_011514313.1:p.His532Leu
XM_011516012.2:c.1598A>T XP_011514314.1:p.His533Leu
XM_011516013.2:c.1598A>T XP_011514315.1:p.His533Leu
XM_011516014.2:c.1598A>T XP_011514316.1:p.His533Leu
XM_011516017.2:c.1124A>T XP_011514319.1:p.His375Leu
XM_011516018.2:c.1097A>T XP_011514320.1:p.His366Leu
XM_017011951.2:c.1598A>T XP_016867440.1:p.His533Leu
NM_001127231.3:c.1598A>T NP_001120703.1:p.His533Leu
NM_015570.4:c.1598A>T MANE Select NP_056385.1:p.His533Leu
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