ClinVar

NM_007314.4(ABL2):c.2085A>G (p.Leu695=)

Gene:

ABL2:ABL proto-oncogene 2, non-receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.2

Genomic location:

• Chr1: 179109182 (on Assembly GRCh38)
• Chr1: 179078317 (on Assembly GRCh37)

Preferred name:

NM_007314.4(ABL2):c.2085A>G (p.Leu695=)

HGVS:

• NC_000001.11:g.179109182T>C
• NG_028242.1:g.125503A>G
• NM_001136000.3:c.2014+26A>G
• NM_001168236.2:c.2022A>G
• NM_001168237.2:c.2059+26A>G
• NM_001168238.2:c.1996+26A>G
• NM_001168239.2:c.1951+26A>G
• NM_005158.5:c.2040A>G
• NM_007314.4:c.2085A>GMANE SELECT
• NP_001161708.1:p.Leu674=
• NP_005149.4:p.Leu680=
• NP_009298.1:p.Leu695=
• NC_000001.10:g.179078317T>C
• NM_007314.3:c.2085A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs386352273

NCBI 1000 Genomes Browser:

rs386352273

Molecular consequence:

• NM_001136000.3:c.2014+26A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001168237.2:c.2059+26A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001168238.2:c.1996+26A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001168239.2:c.1951+26A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001168236.2:c.2022A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005158.5:c.2040A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_007314.4:c.2085A>G - synonymous variant - [Sequence Ontology: SO:0001819]