ClinVar

NM_000399.5(EGR2):c.1152C>A (p.His384Gln)

Gene:

EGR2:early growth response 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 62813486 (on Assembly GRCh38)
• Chr10: 64573246 (on Assembly GRCh37)

Preferred name:

NM_000399.5(EGR2):c.1152C>A (p.His384Gln)

HGVS:

• NC_000010.11:g.62813486G>T
• NG_008936.2:g.111415C>A
• NM_000399.5:c.1152C>AMANE SELECT
• NM_001136177.3:c.1152C>A
• NM_001136178.2:c.1152C>A
• NM_001136179.3:c.1002C>A
• NM_001321037.2:c.1002C>A
• NP_000390.2:p.His384Gln
• NP_001129649.1:p.His384Gln
• NP_001129650.1:p.His384Gln
• NP_001129651.1:p.His334Gln
• NP_001307966.1:p.His334Gln
• LRG_239:g.111415C>A
• NC_000010.10:g.64573246G>T

This HGVS expression did not pass validation

Protein change:

H334Q

Links:

dbSNP: rs2132702519

NCBI 1000 Genomes Browser:

rs2132702519

Molecular consequence:

• NM_000399.5:c.1152C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136177.3:c.1152C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136178.2:c.1152C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136179.3:c.1002C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321037.2:c.1002C>A - missense variant - [Sequence Ontology: SO:0001583]