ClinVar

NM_000211.5(ITGB2):c.2145C>T (p.Ile715=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44886838 (on Assembly GRCh38)
• Chr21: 46306753 (on Assembly GRCh37)

Preferred name:

NM_000211.5(ITGB2):c.2145C>T (p.Ile715=)

HGVS:

• NC_000021.9:g.44886838G>A
• NG_007270.2:g.47001C>T
• NM_000211.5:c.2145C>TMANE SELECT
• NM_001127491.3:c.2145C>T
• NM_001303238.2:c.1938C>T
• NP_000202.3:p.Ile715=
• NP_001120963.2:p.Ile715=
• NP_001290167.1:p.Ile646=
• LRG_76t1:c.2145C>T
• LRG_76:g.47001C>T
• NC_000021.8:g.46306753G>A
• NM_000211.3:c.2145C>T
• NM_000211.4:c.2145C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144590448

NCBI 1000 Genomes Browser:

rs144590448

Molecular consequence:

• NM_000211.5:c.2145C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127491.3:c.2145C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001303238.2:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]