ClinVar

NM_000211.5(ITGB2):c.2147G>C (p.Gly716Ala)

Gene:

ITGB2:integrin subunit beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44886836 (on Assembly GRCh38)
• Chr21: 46306751 (on Assembly GRCh37)

Preferred name:

NM_000211.5(ITGB2):c.2147G>C (p.Gly716Ala)

HGVS:

• NC_000021.9:g.44886836C>G
• NG_007270.2:g.47003G>C
• NM_000211.5:c.2147G>CMANE SELECT
• NM_001127491.3:c.2147G>C
• NM_001303238.2:c.1940G>C
• NP_000202.3:p.Gly716Ala
• NP_001120963.2:p.Gly716Ala
• NP_001290167.1:p.Gly647Ala
• LRG_76t1:c.2147G>C
• LRG_76:g.47003G>C
• NC_000021.8:g.46306751C>G
• NM_000211.3:c.2147G>C

This HGVS expression did not pass validation

Protein change:

G647A

Links:

UniProtKB/Swiss-Prot: VAR_065664; dbSNP: rs179363872

NCBI 1000 Genomes Browser:

rs179363872

Molecular consequence:

• NM_000211.5:c.2147G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127491.3:c.2147G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303238.2:c.1940G>C - missense variant - [Sequence Ontology: SO:0001583]