ClinVar

NM_018097.3(HAUS2):c.34G>A (p.Ala12Thr)

Genes:

LOC130056925:ATAC-STARR-seq lymphoblastoid active region 9304 [Gene]
HAUS2:HAUS augmin like complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.2

Genomic location:

• Chr15: 42548906 (on Assembly GRCh38)
• Chr15: 42841104 (on Assembly GRCh37)

Preferred name:

NM_018097.3(HAUS2):c.34G>A (p.Ala12Thr)

HGVS:

• NC_000015.10:g.42548906G>A
• NM_001130447.2:c.34G>A
• NM_001323629.2:c.34G>A
• NM_001323630.2:c.-227G>A
• NM_001323631.2:c.-338G>A
• NM_001323632.2:c.-179G>A
• NM_018097.3:c.34G>AMANE SELECT
• NP_001123919.1:p.Ala12Thr
• NP_001310558.1:p.Ala12Thr
• NP_060567.1:p.Ala12Thr
• NC_000015.9:g.42841104G>A
• NM_018097.2:c.34G>A

This HGVS expression did not pass validation

Protein change:

A12T

Molecular consequence:

• NM_001323630.2:c.-227G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323631.2:c.-338G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323632.2:c.-179G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001130447.2:c.34G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323629.2:c.34G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018097.3:c.34G>A - missense variant - [Sequence Ontology: SO:0001583]