ClinVar

NM_004613.4(TGM2):c.1104G>A (p.Thr368=)

Gene:

TGM2:transglutaminase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.23

Genomic location:

• Chr20: 38139650 (on Assembly GRCh38)
• Chr20: 36768052 (on Assembly GRCh37)

Preferred name:

NM_004613.4(TGM2):c.1104G>A (p.Thr368=)

HGVS:

• NC_000020.11:g.38139650C>T
• NM_001323316.2:c.1104G>A
• NM_001323317.2:c.861G>A
• NM_001323318.2:c.924G>A
• NM_004613.4:c.1104G>AMANE SELECT
• NM_198951.3:c.1104G>A
• NP_001310245.1:p.Thr368=
• NP_001310246.1:p.Thr287=
• NP_001310247.1:p.Thr308=
• NP_004604.2:p.Thr368=
• NP_945189.1:p.Thr368=
• NC_000020.10:g.36768052C>T
• NM_004613.3:c.1104G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs772874225

NCBI 1000 Genomes Browser:

rs772874225

Molecular consequence:

• NM_001323316.2:c.1104G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323317.2:c.861G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323318.2:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004613.4:c.1104G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198951.3:c.1104G>A - synonymous variant - [Sequence Ontology: SO:0001819]