ClinVar

NM_001190.4(BCAT2):c.486C>T (p.Ala162=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 48800026 (on Assembly GRCh38)
• Chr19: 49303283 (on Assembly GRCh37)

Preferred name:

NM_001190.4(BCAT2):c.486C>T (p.Ala162=)

HGVS:

• NC_000019.10:g.48800026G>A
• NG_013003.1:g.16038C>T
• NM_001164773.2:c.210C>T
• NM_001190.4:c.486C>TMANE SELECT
• NM_001284325.2:c.366C>T
• NP_001158245.1:p.Ala70=
• NP_001181.2:p.Ala162=
• NP_001271254.1:p.Ala122=
• NC_000019.9:g.49303283G>A
• NR_028450.1:n.1023C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001164773.2:c.210C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001190.4:c.486C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001284325.2:c.366C>T - synonymous variant - [Sequence Ontology: SO:0001819]