ClinVar

NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33164453 (on Assembly GRCh38)
• Chr6: 33132230 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp)

HGVS:

• NC_000006.12:g.33164453C>G
• NG_011589.1:g.33016G>C
• NM_080679.3:c.4563G>C
• NM_080680.3:c.4884G>CMANE SELECT
• NM_080681.3:c.4626G>C
• NP_542410.2:p.Glu1521Asp
• NP_542411.2:p.Glu1628Asp
• NP_542411.2:p.Glu1628Asp
• NP_542412.2:p.Glu1542Asp
• NC_000006.11:g.33132230C>G
• NM_080680.2:c.4884G>C

This HGVS expression did not pass validation

Protein change:

E1521D

Links:

dbSNP: rs2229790

NCBI 1000 Genomes Browser:

rs2229790

Molecular consequence:

• NM_080679.3:c.4563G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_080680.3:c.4884G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_080681.3:c.4626G>C - missense variant - [Sequence Ontology: SO:0001583]