ClinVar

NM_023932.4(DLK2):c.828G>A (p.Gly276=)

Genes:

ABCC10:ATP binding cassette subfamily C member 10 [Gene - OMIM - HGNC]
DLK2:delta like non-canonical Notch ligand 2 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43450863 (on Assembly GRCh38)
• Chr6: 43418601 (on Assembly GRCh37)

Preferred name:

NM_023932.4(DLK2):c.828G>A (p.Gly276=)

HGVS:

• NC_000006.12:g.43450863C>T
• NM_001286655.1:c.717G>A
• NM_001286656.2:c.810G>A
• NM_023932.4:c.828G>AMANE SELECT
• NM_206539.2:c.828G>A
• NP_001273584.1:p.Gly239=
• NP_001273585.1:p.Gly270=
• NP_076421.2:p.Gly276=
• NP_996262.1:p.Gly276=
• NC_000006.11:g.43418601C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001286655.1:c.717G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286656.2:c.810G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_023932.4:c.828G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_206539.2:c.828G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1