ClinVar

NM_080680.3(COL11A2):c.2628+3G>A

Gene:

COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33173698 (on Assembly GRCh38)
• Chr6: 33141475 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.2628+3G>A

Other names:

p.?

HGVS:

• NC_000006.12:g.33173698C>T
• NG_011589.1:g.23771G>A
• NM_080679.3:c.2307+3G>A
• NM_080680.3:c.2628+3G>AMANE SELECT
• NM_080681.3:c.2370+3G>A
• NC_000006.11:g.33141475C>T
• NM_080680.2:c.2628+3G>A
• c.2628+3G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs970901

Molecular consequence:

• NM_080679.3:c.2307+3G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_080680.3:c.2628+3G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_080681.3:c.2370+3G>A - intron variant - [Sequence Ontology: SO:0001627]