ClinVar

NM_001159387.2(B4GALNT2):c.252C>A (p.Asn84Lys)

Gene:

B4GALNT2:beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.32

Genomic location:

• Chr17: 49142071 (on Assembly GRCh38)
• Chr17: 47219433 (on Assembly GRCh37)

Preferred name:

NM_001159387.2(B4GALNT2):c.252C>A (p.Asn84Lys)

HGVS:

• NC_000017.11:g.49142071C>A
• NM_001159387.2:c.252C>AMANE SELECT
• NM_001159388.2:c.174C>A
• NM_153446.3:c.432C>A
• NP_001152859.1:p.Asn84Lys
• NP_001152860.1:p.Asn58Lys
• NP_703147.2:p.Asn144Lys
• NC_000017.10:g.47219433C>A
• NM_153446.2:c.432C>A

This HGVS expression did not pass validation

Protein change:

N144K

Molecular consequence:

• NM_001159387.2:c.252C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001159388.2:c.174C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153446.3:c.432C>A - missense variant - [Sequence Ontology: SO:0001583]