ClinVar

NM_001610.4(ACP2):c.495G>A (p.Leu165=)

Gene:

ACP2:acid phosphatase 2, lysosomal [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 47245528 (on Assembly GRCh38)
• Chr11: 47267079 (on Assembly GRCh37)

Preferred name:

NM_001610.4(ACP2):c.495G>A (p.Leu165=)

HGVS:

• NC_000011.10:g.47245528C>T
• NG_023296.1:g.8379G>A
• NG_030392.1:g.2229C>T
• NM_001302489.2:c.411G>A
• NM_001302490.2:c.399G>A
• NM_001302491.2:c.450+154G>A
• NM_001302492.2:c.-40-106G>A
• NM_001357016.2:c.495G>A
• NM_001610.4:c.495G>AMANE SELECT
• NP_001289418.1:p.Leu137=
• NP_001289419.1:p.Leu133=
• NP_001343945.1:p.Leu165=
• NP_001601.1:p.Leu165=
• NC_000011.9:g.47267079C>T
• NM_001610.2:c.495G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs10838677

NCBI 1000 Genomes Browser:

rs10838677

Molecular consequence:

• NM_001302491.2:c.450+154G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001302492.2:c.-40-106G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001302489.2:c.411G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302490.2:c.399G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001357016.2:c.495G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001610.4:c.495G>A - synonymous variant - [Sequence Ontology: SO:0001819]