ClinVar

NM_000063.6(C2):c.477C>T (p.Gly159=)

Gene:

C2:complement C2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 31933644 (on Assembly GRCh38)
• Chr6: 31901421 (on Assembly GRCh37)

Preferred name:

NM_000063.6(C2):c.477C>T (p.Gly159=)

HGVS:

• NC_000006.12:g.31933644C>T
• NG_011730.1:g.11156C>T
• NM_000063.6:c.477C>TMANE SELECT
• NM_001145903.3:c.81C>T
• NM_001178063.3:c.108C>T
• NM_001282457.2:c.-29C>T
• NM_001282458.2:c.390C>T
• NM_001282459.2:c.477C>T
• NP_000054.2:p.Gly159=
• NP_001139375.1:p.Gly27=
• NP_001171534.1:p.Gly36=
• NP_001269387.1:p.Gly130=
• NP_001269388.1:p.Gly159=
• LRG_26:g.11156C>T
• NC_000006.11:g.31901421C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs955522624

NCBI 1000 Genomes Browser:

rs955522624

Molecular consequence:

• NM_001282457.2:c.-29C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000063.6:c.477C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145903.3:c.81C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178063.3:c.108C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282458.2:c.390C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282459.2:c.477C>T - synonymous variant - [Sequence Ontology: SO:0001819]