ClinVar

NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys)

Gene:

TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201363374 (on Assembly GRCh38)
• Chr1: 201332502 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys)

Other names:

p.N164K:AAC>AAA

HGVS:

• NC_000001.11:g.201363374G>T
• NG_007556.1:g.19304C>A
• NM_000364.4:c.522C>A
• NM_001001430.3:c.492C>A
• NM_001001431.3:c.492C>A
• NM_001001432.3:c.477C>A
• NM_001276345.2:c.522C>AMANE SELECT
• NM_001276346.2:c.402C>A
• NM_001276347.2:c.492C>A
• NP_000355.2:p.Asn174Lys
• NP_001001430.1:p.Asn164Lys
• NP_001001431.1:p.Asn164Lys
• NP_001001432.1:p.Asn159Lys
• NP_001263274.1:p.Asn174Lys
• NP_001263275.1:p.Asn134Lys
• NP_001263276.1:p.Asn164Lys
• LRG_431t1:c.522C>A
• LRG_431:g.19304C>A
• LRG_431p1:p.Asn174Lys
• NC_000001.10:g.201332502G>T
• NM_001001430.1:c.492C>A
• NM_001001430.2:c.492C>A

This HGVS expression did not pass validation

Protein change:

N134K

Links:

dbSNP: rs483352833

NCBI 1000 Genomes Browser:

rs483352833

Molecular consequence:

• NM_000364.4:c.522C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.492C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.492C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.477C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.522C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.402C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.492C>A - missense variant - [Sequence Ontology: SO:0001583]