ClinVar

NM_006122.4(MAN2A2):c.72C>T (p.Leu24=)

Genes:

LOC130057949:ATAC-STARR-seq lymphoblastoid active region 10101 [Gene]
MAN2A2:mannosidase alpha class 2A member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90904279 (on Assembly GRCh38)
• Chr15: 91447509 (on Assembly GRCh37)

Preferred name:

NM_006122.4(MAN2A2):c.72C>T (p.Leu24=)

HGVS:

• NC_000015.10:g.90904279C>T
• NM_001320977.2:c.72C>T
• NM_006122.4:c.72C>TMANE SELECT
• NP_001307906.1:p.Leu24=
• NP_006113.2:p.Leu24=
• NC_000015.9:g.91447509C>T
• NM_006122.3:c.72C>T
• NR_135502.2:n.401C>T
• NR_135503.2:n.401C>T
• NR_135504.1:n.90C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2677743

NCBI 1000 Genomes Browser:

rs2677743

Molecular consequence:

• NR_135502.2:n.401C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_135503.2:n.401C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_135504.1:n.90C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001320977.2:c.72C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006122.4:c.72C>T - synonymous variant - [Sequence Ontology: SO:0001819]