ClinVar

NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)

Gene:

COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 46125484 (on Assembly GRCh38)
• Chr21: 47545398 (on Assembly GRCh37)

Preferred name:

NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)

HGVS:

• NC_000021.9:g.46125484C>T
• NG_008675.1:g.32366C>T
• NM_001849.4:c.1836C>TMANE SELECT
• NM_058174.3:c.1836C>T
• NM_058175.3:c.1836C>T
• NP_001840.3:p.Gly612=
• NP_001840.3:p.Gly612=
• NP_478054.2:p.Gly612=
• NP_478055.2:p.Gly612=
• LRG_476t1:c.1836C>T
• LRG_476:g.32366C>T
• LRG_476p1:p.Gly612=
• NC_000021.8:g.47545398C>T
• NM_001849.3:c.1836C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs141257132

NCBI 1000 Genomes Browser:

rs141257132

Molecular consequence:

• NM_001849.4:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_058174.3:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_058175.3:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2