ClinVar

NM_000392.5(ABCC2):c.1429A>C (p.Asn477His)

Gene:

ABCC2:ATP binding cassette subfamily C member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.2

Genomic location:

• Chr10: 99804238 (on Assembly GRCh38)
• Chr10: 101563995 (on Assembly GRCh37)

Preferred name:

NM_000392.5(ABCC2):c.1429A>C (p.Asn477His)

HGVS:

• NC_000010.11:g.99804238A>C
• NG_011798.2:g.26641A>C
• NM_000392.5:c.1429A>CMANE SELECT
• NP_000383.2:p.Asn477His
• LRG_1208t1:c.1429A>C
• LRG_1208:g.26641A>C
• LRG_1208p1:p.Asn477His
• NC_000010.10:g.101563995A>C
• NG_011798.1:g.26533A>C

This HGVS expression did not pass validation

Protein change:

N477H

Links:

dbSNP: rs1564677235

NCBI 1000 Genomes Browser:

rs1564677235

Molecular consequence:

• NM_000392.5:c.1429A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1