ClinVar

NM_004613.4(TGM2):c.1498G>A (p.Ala500Thr)

Gene:

TGM2:transglutaminase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.23

Genomic location:

• Chr20: 38138230 (on Assembly GRCh38)
• Chr20: 36766632 (on Assembly GRCh37)

Preferred name:

NM_004613.4(TGM2):c.1498G>A (p.Ala500Thr)

HGVS:

• NC_000020.11:g.38138230C>T
• NM_001323316.2:c.1498G>A
• NM_001323317.2:c.1255G>A
• NM_001323318.2:c.1318G>A
• NM_004613.4:c.1498G>AMANE SELECT
• NM_198951.3:c.1498G>A
• NP_001310245.1:p.Ala500Thr
• NP_001310246.1:p.Ala419Thr
• NP_001310247.1:p.Ala440Thr
• NP_004604.2:p.Ala500Thr
• NP_945189.1:p.Ala500Thr
• NC_000020.10:g.36766632C>T
• NM_004613.2:c.1498G>A

This HGVS expression did not pass validation

Protein change:

A419T

Molecular consequence:

• NM_001323316.2:c.1498G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323317.2:c.1255G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323318.2:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004613.4:c.1498G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198951.3:c.1498G>A - missense variant - [Sequence Ontology: SO:0001583]