ClinVar

NM_002070.4(GNAI2):c.536G>A (p.Arg179His)

Gene:

GNAI2:G protein subunit alpha i2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 50256263 (on Assembly GRCh38)
• Chr3: 50293695 (on Assembly GRCh37)

Preferred name:

NM_002070.4(GNAI2):c.536G>A (p.Arg179His)

HGVS:

• NC_000003.12:g.50256263G>A
• NG_016002.2:g.34576G>A
• NM_001166425.2:c.425G>A
• NM_001282617.2:c.380G>A
• NM_001282618.2:c.293G>A
• NM_001282619.2:c.488G>A
• NM_001282620.2:c.488G>A
• NM_002070.4:c.536G>AMANE SELECT
• NP_001159897.1:p.Arg142His
• NP_001269546.1:p.Arg127His
• NP_001269547.1:p.Arg98His
• NP_001269548.1:p.Arg163His
• NP_001269549.1:p.Arg163His
• NP_002061.1:p.Arg179His
• NC_000003.11:g.50293695G>A

This HGVS expression did not pass validation

Protein change:

R127H; ARG179HIS

Links:

OMIM: 139360.0002; dbSNP: rs137853227

NCBI 1000 Genomes Browser:

rs137853227

Molecular consequence:

• NM_001166425.2:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282617.2:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282618.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282619.2:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282620.2:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002070.4:c.536G>A - missense variant - [Sequence Ontology: SO:0001583]