ClinVar

NM_001190.4(BCAT2):c.790G>A (p.Glu264Lys)

Gene:

BCAT2:branched chain amino acid transaminase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 48797239 (on Assembly GRCh38)
• Chr19: 49300496 (on Assembly GRCh37)

Preferred name:

NM_001190.4(BCAT2):c.790G>A (p.Glu264Lys)

Other names:

E264K

HGVS:

• NC_000019.10:g.48797239C>T
• NG_013003.1:g.18825G>A
• NM_001164773.2:c.514G>A
• NM_001190.4:c.790G>AMANE SELECT
• NM_001284325.2:c.670G>A
• NP_001158245.1:p.Glu172Lys
• NP_001181.2:p.Glu264Lys
• NP_001271254.1:p.Glu224Lys
• NC_000019.9:g.49300496C>T

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the variant in the paper by Wang et al. (2015)[PubMed: 25653144] to establish the HGVS expression for this allele.

Protein change:

E172K; GLU264LYS

Links:

OMIM: 113530.0002; dbSNP: rs767653663

NCBI 1000 Genomes Browser:

rs767653663

Molecular consequence:

• NM_001164773.2:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190.4:c.790G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001284325.2:c.670G>A - missense variant - [Sequence Ontology: SO:0001583]