ClinVar

NM_001348768.2(HECW2):c.4331G>C (p.Arg1444Thr)

Gene:

HECW2:HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.3

Genomic location:

• Chr2: 196220116 (on Assembly GRCh38)
• Chr2: 197084840 (on Assembly GRCh37)

Preferred name:

NM_001348768.2(HECW2):c.4331G>C (p.Arg1444Thr)

HGVS:

• NC_000002.12:g.196220116C>G
• NG_053156.1:g.378577G>C
• NM_001304840.3:c.3263G>C
• NM_001348768.2:c.4331G>CMANE SELECT
• NM_020760.4:c.4331G>C
• NP_001291769.1:p.Arg1088Thr
• NP_001335697.1:p.Arg1444Thr
• NP_065811.1:p.Arg1444Thr
• NC_000002.11:g.197084840C>G
• NM_001348768.1:c.4331G>C

This HGVS expression did not pass validation

Protein change:

R1088T

Links:

dbSNP: rs1687613913

NCBI 1000 Genomes Browser:

rs1687613913

Molecular consequence:

• NM_001304840.3:c.3263G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348768.2:c.4331G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_020760.4:c.4331G>C - missense variant - [Sequence Ontology: SO:0001583]