ClinVar

NM_001206744.2(TPO):c.2665G>A (p.Gly889Arg)

Genes:

LOC126806104:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:1544276-1545475 [Gene]
TPO:thyroid peroxidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.3

Genomic location:

• Chr2: 1540640 (on Assembly GRCh38)
• Chr2: 1544412 (on Assembly GRCh37)

Preferred name:

NM_001206744.2(TPO):c.2665G>A (p.Gly889Arg)

HGVS:

• NC_000002.12:g.1540640G>A
• NG_011581.1:g.132178G>A
• NG_011581.2:g.171595G>A
• NG_082428.1:g.237G>A
• NM_000547.6:c.2665G>A
• NM_001206744.2:c.2665G>AMANE SELECT
• NM_001206745.2:c.2494G>A
• NM_175719.4:c.2494G>A
• NM_175721.3:c.2533G>A
• NM_175722.3:c.2146G>A
• NP_000538.3:p.Gly889Arg
• NP_001193673.1:p.Gly889Arg
• NP_001193674.1:p.Gly832Arg
• NP_783650.1:p.Gly832Arg
• NP_783652.1:p.Gly845Arg
• NP_783653.1:p.Gly716Arg
• NC_000002.11:g.1544412G>A
• NM_000547.5:c.2665G>A

This HGVS expression did not pass validation

Protein change:

G716R

Molecular consequence:

• NM_000547.6:c.2665G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001206744.2:c.2665G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001206745.2:c.2494G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_175719.4:c.2494G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_175721.3:c.2533G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_175722.3:c.2146G>A - missense variant - [Sequence Ontology: SO:0001583]