ClinVar

NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.2

Genomic location:

• Chr2: 120989380 (on Assembly GRCh38)
• Chr2: 121746956 (on Assembly GRCh37)

Preferred name:

NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser)

HGVS:

• NC_000002.12:g.120989380G>T
• NG_009030.1:g.197090G>T
• NM_001371271.1:c.3466G>T
• NM_001374353.1:c.3415G>TMANE SELECT
• NM_001374354.1:c.3040G>T
• NM_005270.5:c.3466G>T
• NP_001358200.1:p.Ala1156Ser
• NP_001361282.1:p.Ala1139Ser
• NP_001361283.1:p.Ala1014Ser
• NP_005261.2:p.Ala1156Ser
• NP_005261.2:p.Ala1156Ser
• NC_000002.11:g.121746956G>T
• NM_005270.4:c.3466G>T
• P10070:p.Ala1156Ser

This HGVS expression did not pass validation

Protein change:

A1014S

Links:

UniProtKB: P10070#VAR_047306; dbSNP: rs3738880

NCBI 1000 Genomes Browser:

rs3738880

Molecular consequence:

• NM_001371271.1:c.3466G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374353.1:c.3415G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374354.1:c.3040G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005270.5:c.3466G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

8