ClinVar

NM_018263.6(ASXL2):c.3962C>A (p.Thr1321Asn)

Gene:

ASXL2:ASXL transcriptional regulator 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 25742375 (on Assembly GRCh38)
• Chr2: 25965244 (on Assembly GRCh37)

Preferred name:

NM_018263.6(ASXL2):c.3962C>A (p.Thr1321Asn)

HGVS:

• NC_000002.12:g.25742375G>T
• NG_052995.1:g.141142C>A
• NM_001369346.1:c.3788C>A
• NM_001369347.1:c.3182C>A
• NM_018263.6:c.3962C>AMANE SELECT
• NP_001356275.1:p.Thr1263Asn
• NP_001356276.1:p.Thr1061Asn
• NP_060733.4:p.Thr1321Asn
• LRG_1421t1:c.3962C>A
• LRG_1421:g.141142C>A
• LRG_1421p1:p.Thr1321Asn
• NC_000002.11:g.25965244G>T

This HGVS expression did not pass validation

Protein change:

T1061N

Molecular consequence:

• NM_001369346.1:c.3788C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369347.1:c.3182C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018263.6:c.3962C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1