ClinVar

NM_001144888.2(BAIAP2):c.624C>T (p.Ser208=)

Gene:

BAIAP2:BAR/IMD domain containing adaptor protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 81100062 (on Assembly GRCh38)
• Chr17: 79073862 (on Assembly GRCh37)

Preferred name:

NM_001144888.2(BAIAP2):c.624C>T (p.Ser208=)

HGVS:

• NC_000017.11:g.81100062C>T
• NG_029486.2:g.69916C>T
• NM_001144888.2:c.624C>TMANE SELECT
• NM_006340.3:c.624C>T
• NM_017450.3:c.624C>T
• NM_017451.3:c.624C>T
• NP_001138360.1:p.Ser208=
• NP_006331.1:p.Ser208=
• NP_059344.1:p.Ser208=
• NP_059345.1:p.Ser208=
• NC_000017.10:g.79073862C>T
• NG_029486.1:g.69916C>T
• NM_017451.2:c.624C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs141445738

NCBI 1000 Genomes Browser:

rs141445738

Molecular consequence:

• NM_001144888.2:c.624C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006340.3:c.624C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017450.3:c.624C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017451.3:c.624C>T - synonymous variant - [Sequence Ontology: SO:0001819]