ClinVar

NM_080680.3(COL11A2):c.3691-136G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33169626 (on Assembly GRCh38)
• Chr6: 33137403 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.3691-136G>A

HGVS:

• NC_000006.12:g.33169626C>T
• NG_011589.1:g.27843G>A
• NM_080679.3:c.3370-136G>A
• NM_080680.3:c.3691-136G>AMANE SELECT
• NM_080681.3:c.3433-136G>A
• NC_000006.11:g.33137403C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2855442

NCBI 1000 Genomes Browser:

rs2855442

Molecular consequence:

• NM_080679.3:c.3370-136G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_080680.3:c.3691-136G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_080681.3:c.3433-136G>A - intron variant - [Sequence Ontology: SO:0001627]