ClinVar

NM_080680.3(COL11A2):c.4878C>T (p.Asp1626=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33164459 (on Assembly GRCh38)
• Chr6: 33132236 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.4878C>T (p.Asp1626=)

HGVS:

• NC_000006.12:g.33164459G>A
• NG_011589.1:g.33010C>T
• NG_107844.1:g.660G>A
• NM_001424108.1:c.4698C>T
• NM_001424109.1:c.4032C>T
• NM_001424110.1:c.3852C>T
• NM_001424111.1:c.3852C>T
• NM_001424112.1:c.2832C>T
• NM_080679.3:c.4557C>T
• NM_080680.3:c.4878C>TMANE SELECT
• NM_080681.3:c.4620C>T
• NP_001411037.1:p.Asp1566=
• NP_001411038.1:p.Asp1344=
• NP_001411039.1:p.Asp1284=
• NP_001411040.1:p.Asp1284=
• NP_001411041.1:p.Asp944=
• NP_542410.2:p.Asp1519=
• NP_542411.2:p.Asp1626=
• NP_542412.2:p.Asp1540=
• NC_000006.11:g.33132236G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001424108.1:c.4698C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424109.1:c.4032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424110.1:c.3852C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424111.1:c.3852C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424112.1:c.2832C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080679.3:c.4557C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080680.3:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080681.3:c.4620C>T - synonymous variant - [Sequence Ontology: SO:0001819]