ClinVar

NM_004613.4(TGM2):c.812G>A (p.Arg271His)

Gene:

TGM2:transglutaminase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.23

Genomic location:

• Chr20: 38146764 (on Assembly GRCh38)
• Chr20: 36775166 (on Assembly GRCh37)

Preferred name:

NM_004613.4(TGM2):c.812G>A (p.Arg271His)

HGVS:

• NC_000020.11:g.38146764C>T
• NM_001323316.2:c.812G>A
• NM_001323317.2:c.569G>A
• NM_001323318.2:c.632G>A
• NM_004613.4:c.812G>AMANE SELECT
• NM_198951.3:c.812G>A
• NP_001310245.1:p.Arg271His
• NP_001310246.1:p.Arg190His
• NP_001310247.1:p.Arg211His
• NP_004604.2:p.Arg271His
• NP_945189.1:p.Arg271His
• NC_000020.10:g.36775166C>T
• NM_004613.2:c.812G>A

This HGVS expression did not pass validation

Protein change:

R190H

Molecular consequence:

• NM_001323316.2:c.812G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323317.2:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323318.2:c.632G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004613.4:c.812G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198951.3:c.812G>A - missense variant - [Sequence Ontology: SO:0001583]