ClinVar

NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)

Gene:

MAP2K2:mitogen-activated protein kinase kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 4099309 (on Assembly GRCh38)
• Chr19: 4099307 (on Assembly GRCh37)

Preferred name:

NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)

HGVS:

• NC_000019.10:g.4099309C>T
• NG_007996.1:g.29820G>A
• NM_030662.4:c.811G>AMANE SELECT
• NP_109587.1:p.Asp271Asn
• LRG_750t1:c.811G>A
• LRG_750:g.29820G>A
• NC_000019.9:g.4099307C>T
• NC_000019.9:g.4099307C>T
• NM_030662.3:c.811G>A

This HGVS expression did not pass validation

Protein change:

D271N

Links:

dbSNP: rs758031424

NCBI 1000 Genomes Browser:

rs758031424

Molecular consequence:

• NM_030662.4:c.811G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1