ClinVar

NM_001272071.2(AP1S2):c.222C>T (p.Asp74=)

Gene:

AP1S2:adaptor related protein complex 1 subunit sigma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 15845969 (on Assembly GRCh38)
• ChrX: 15864092 (on Assembly GRCh37)

Preferred name:

NM_001272071.2(AP1S2):c.222C>T (p.Asp74=)

HGVS:

• NC_000023.11:g.15845969G>A
• NG_009274.2:g.14009C>T
• NM_001272071.2:c.222C>TMANE SELECT
• NM_001368994.1:c.222C>T
• NM_001369007.1:c.222C>T
• NM_001369008.1:c.222C>T
• NM_003916.5:c.222C>T
• NP_001259000.1:p.Asp74=
• NP_001355923.1:p.Asp74=
• NP_001355936.1:p.Asp74=
• NP_001355937.1:p.Asp74=
• NP_003907.3:p.Asp74=
• NC_000023.10:g.15864092G>A
• NR_160932.1:n.348C>T
• NR_160933.1:n.348C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_160932.1:n.348C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160933.1:n.348C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001272071.2:c.222C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368994.1:c.222C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369007.1:c.222C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369008.1:c.222C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003916.5:c.222C>T - synonymous variant - [Sequence Ontology: SO:0001819]