ClinVar

NM_003282.4(TNNI2):c.221C>T (p.Ala74Val)

Gene:

TNNI2:troponin I2, fast skeletal type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 1840853 (on Assembly GRCh38)
• Chr11: 1862083 (on Assembly GRCh37)

Preferred name:

NM_003282.4(TNNI2):c.221C>T (p.Ala74Val)

HGVS:

• NC_000011.10:g.1840853C>T
• NG_011621.1:g.6851C>T
• NM_001145829.2:c.221C>T
• NM_001145841.2:c.221C>T
• NM_003282.4:c.221C>TMANE SELECT
• NP_001139301.1:p.Ala74Val
• NP_001139313.1:p.Ala74Val
• NP_003273.1:p.Ala74Val
• LRG_851t1:c.221C>T
• LRG_851:g.6851C>T
• LRG_851p1:p.Ala74Val
• NC_000011.9:g.1862083C>T
• NM_003282.3:c.221C>T

This HGVS expression did not pass validation

Protein change:

A74V

Links:

dbSNP: rs770837715

NCBI 1000 Genomes Browser:

rs770837715

Molecular consequence:

• NM_001145829.2:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145841.2:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003282.4:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]