ClinVar

NM_001024630.4(RUNX2):c.219G>T (p.Ala73=)

Genes:

RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
LOC109611589:runt related transcription factor 2 polyalanine expansion region [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 45422753 (on Assembly GRCh38)
• Chr6: 45390490 (on Assembly GRCh37)

Preferred name:

NM_001024630.4(RUNX2):c.219G>T (p.Ala73=)

HGVS:

• NC_000006.12:g.45422753G>T
• NG_008020.2:g.99437G>T
• NG_052657.1:g.175G>T
• NM_001015051.4:c.219G>T
• NM_001024630.4:c.219G>TMANE SELECT
• NM_001278478.2:c.177G>T
• NM_001369405.1:c.177G>T
• NP_001015051.3:p.Ala73=
• NP_001019801.3:p.Ala73=
• NP_001265407.1:p.Ala59=
• NP_001356334.1:p.Ala59=
• NC_000006.11:g.45390490G>T
• NG_008020.1:g.99437G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1022449962

NCBI 1000 Genomes Browser:

rs1022449962

Molecular consequence:

• NM_001015051.4:c.219G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001024630.4:c.219G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278478.2:c.177G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369405.1:c.177G>T - synonymous variant - [Sequence Ontology: SO:0001819]