LDH info

Canonical Allele Identifier: CA10602965
Gene: AUTS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 280395
ClinVar RCV Id: RCV000301706
dbSNP Id: rs886041609

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777144G>A , CM000669.2:g.70777144G>A GRCh38
NC_000007.13:g.70242130G>A , CM000669.1:g.70242130G>A GRCh37
NC_000007.12:g.69880066G>A NCBI36
NG_034133.1:g.1183226G>A

Transcript Alleles

HGVS Amino-acid change
NM_001127231.2:c.1902G>A VV NP_001120703.1:p.Trp634Ter
NM_015570.3:c.1974G>A VV NP_056385.1:p.Trp658Ter
XM_005250257.1:c.621G>A XP_005250314.1:p.Trp207Ter
XM_011516010.1:c.1995G>A XP_011514312.1:p.Trp665Ter
XM_011516011.1:c.1992G>A XP_011514313.1:p.Trp664Ter
XM_011516012.1:c.1929G>A XP_011514314.1:p.Trp643Ter
XM_011516013.1:c.1923G>A XP_011514315.1:p.Trp641Ter
XM_011516014.1:c.1893G>A XP_011514316.1:p.Trp631Ter
XM_011516015.1:c.1731G>A XP_011514317.1:p.Trp577Ter
XM_011516016.1:c.1704G>A XP_011514318.1:p.Trp568Ter
XM_011516017.1:c.1521G>A XP_011514319.1:p.Trp507Ter
XM_011516018.1:c.1494G>A XP_011514320.1:p.Trp498Ter
XM_005250257.2:c.621G>A XP_005250314.1:p.Trp207Ter
XM_011516010.2:c.1995G>A XP_011514312.1:p.Trp665Ter
XM_011516011.2:c.1992G>A XP_011514313.1:p.Trp664Ter
XM_011516012.2:c.1929G>A XP_011514314.1:p.Trp643Ter
XM_011516013.2:c.1923G>A XP_011514315.1:p.Trp641Ter
XM_011516014.2:c.1893G>A XP_011514316.1:p.Trp631Ter
XM_011516017.2:c.1521G>A XP_011514319.1:p.Trp507Ter
XM_011516018.2:c.1494G>A XP_011514320.1:p.Trp498Ter
XM_017011951.2:c.1995G>A XP_016867440.1:p.Trp665Ter
NM_001127231.3:c.1902G>A VV NP_001120703.1:p.Trp634Ter
NM_015570.4:c.1974G>A VV NP_056385.1:p.Trp658Ter
ENST00000342771.8:c.1974G>A ENSP00000344087.4:p.Trp658Ter
ENST00000406775.6:c.1902G>A ENSP00000385263.2:p.Trp634Ter
ENST00000439256.1:n.72G>A
ENST00000464768.1:n.640G>A
ENST00000465899.1:n.471G>A
ENST00000498384.5:n.342G>A
ENST00000611706.4:c.1230G>A ENSP00000478134.1:p.Trp410Ter
ENST00000615871.4:c.1158G>A ENSP00000479325.1:p.Trp386Ter