ClinVar

NM_001374353.1(GLI2):c.1427A>G (p.His476Arg)

Gene:

GLI2:GLI family zinc finger 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.2

Genomic location:

• Chr2: 120978543 (on Assembly GRCh38)
• Chr2: 121736119 (on Assembly GRCh37)

Preferred name:

NM_001374353.1(GLI2):c.1427A>G (p.His476Arg)

HGVS:

• NC_000002.12:g.120978543A>G
• NG_009030.1:g.186253A>G
• NG_009030.2:g.247677A>G
• NM_001371271.1:c.1478A>G
• NM_001374353.1:c.1427A>GMANE SELECT
• NM_001374354.1:c.1052A>G
• NM_005270.5:c.1478A>G
• NP_001358200.1:p.His493Arg
• NP_001361282.1:p.His476Arg
• NP_001361283.1:p.His351Arg
• NP_005261.2:p.His493Arg
• NC_000002.11:g.121736119A>G

This HGVS expression did not pass validation

Protein change:

H351R

Molecular consequence:

• NM_001371271.1:c.1478A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374353.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374354.1:c.1052A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005270.5:c.1478A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1