ClinVar

NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)

Gene:

CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28696943 (on Assembly GRCh38)
• Chr22: 29092931 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)

HGVS:

• NC_000022.11:g.28696943C>A
• NG_008150.2:g.49924G>T
• NM_001005735.2:c.1182G>T
• NM_001257387.2:c.390G>T
• NM_001349956.2:c.852G>T
• NM_007194.4:c.1053G>TMANE SELECT
• NM_145862.2:c.1009-1070G>T
• NP_001005735.1:p.Glu394Asp
• NP_001244316.1:p.Glu130Asp
• NP_001336885.1:p.Glu284Asp
• NP_009125.1:p.Glu351Asp
• LRG_302t1:c.1053G>T
• LRG_302:g.49924G>T
• LRG_302p1:p.Glu351Asp
• NC_000022.10:g.29092931C>A
• NG_008150.1:g.49892G>T
• NM_007194.3:c.1053G>T
• p.E351D

This HGVS expression did not pass validation

Protein change:

E130D

Links:

dbSNP: rs587782268

NCBI 1000 Genomes Browser:

rs587782268

Molecular consequence:

• NM_145862.2:c.1009-1070G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001005735.2:c.1182G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257387.2:c.390G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349956.2:c.852G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007194.4:c.1053G>T - missense variant - [Sequence Ontology: SO:0001583]