ClinVar

NM_005202.4(COL8A2):c.55G>A (p.Val19Met)

Genes:

LOC129930125:ATAC-STARR-seq lymphoblastoid silent region 654 [Gene]
COL8A2:collagen type VIII alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.3

Genomic location:

• Chr1: 36100188 (on Assembly GRCh38)
• Chr1: 36565789 (on Assembly GRCh37)

Preferred name:

NM_005202.4(COL8A2):c.55G>A (p.Val19Met)

HGVS:

• NC_000001.11:g.36100188C>T
• NG_016245.2:g.29897G>A
• NG_163178.1:g.226C>T
• NM_001294347.2:c.-3+7G>A
• NM_005202.4:c.55G>AMANE SELECT
• NP_005193.1:p.Val19Met
• NC_000001.10:g.36565789C>T
• NM_005202.2:c.55G>A

This HGVS expression did not pass validation

Protein change:

V19M

Molecular consequence:

• NM_001294347.2:c.-3+7G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005202.4:c.55G>A - missense variant - [Sequence Ontology: SO:0001583]