ClinVar

NM_003236.4(TGFA):c.421G>A (p.Glu141Lys)

Gene:

TGFA:transforming growth factor alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.3

Genomic location:

• Chr2: 70453272 (on Assembly GRCh38)
• Chr2: 70680404 (on Assembly GRCh37)

Preferred name:

NM_003236.4(TGFA):c.421G>A (p.Glu141Lys)

HGVS:

• NC_000002.12:g.70453272C>T
• NG_029975.1:g.105744G>A
• NM_001099691.3:c.418G>A
• NM_001308158.2:c.439G>A
• NM_001308159.2:c.436G>A
• NM_003236.4:c.421G>AMANE SELECT
• NP_001093161.1:p.Glu140Lys
• NP_001295087.1:p.Glu147Lys
• NP_001295088.1:p.Glu146Lys
• NP_003227.1:p.Glu141Lys
• NC_000002.11:g.70680404C>T
• NM_003236.3:c.421G>A

This HGVS expression did not pass validation

Protein change:

E140K

Molecular consequence:

• NM_001099691.3:c.418G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308158.2:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308159.2:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003236.4:c.421G>A - missense variant - [Sequence Ontology: SO:0001583]