ClinVar

NM_080680.3(COL11A2):c.4923G>C (p.Arg1641=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33164414 (on Assembly GRCh38)
• Chr6: 33132191 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.4923G>C (p.Arg1641=)

HGVS:

• NC_000006.12:g.33164414C>G
• NG_011589.1:g.33055G>C
• NG_107844.1:g.615C>G
• NM_001424108.1:c.4743G>C
• NM_001424109.1:c.4077G>C
• NM_001424110.1:c.3897G>C
• NM_001424111.1:c.3897G>C
• NM_001424112.1:c.2877G>C
• NM_080679.3:c.4602G>C
• NM_080680.3:c.4923G>CMANE SELECT
• NM_080681.3:c.4665G>C
• NP_001411037.1:p.Arg1581=
• NP_001411038.1:p.Arg1359=
• NP_001411039.1:p.Arg1299=
• NP_001411040.1:p.Arg1299=
• NP_001411041.1:p.Arg959=
• NP_542410.2:p.Arg1534=
• NP_542411.2:p.Arg1641=
• NP_542412.2:p.Arg1555=
• NC_000006.11:g.33132191C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001424108.1:c.4743G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424109.1:c.4077G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424110.1:c.3897G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424111.1:c.3897G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424112.1:c.2877G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080679.3:c.4602G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080680.3:c.4923G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080681.3:c.4665G>C - synonymous variant - [Sequence Ontology: SO:0001819]