Canonical Allele Identifier: CA2023110
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 858094
ClinVar RCV Id: RCV002240507
dbSNP Id: rs757439328
ExAC: 2:189963472 C / T
gnomAD v2: 2-189963472-C-T
gnomAD v3: 2-189098746-C-T
gnomAD v4: 2-189098746-C-T
COSMIC: COSM3695160
MyVariant Identifiers: chr2:g.189963472C>T (hg19) chr2:g.189098746C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098746C>T , CM000664.2:g.189098746C>T GRCh38
NC_000002.11:g.189963472C>T , CM000664.1:g.189963472C>T GRCh37
NC_000002.10:g.189671717C>T NCBI36
NG_011799.1:g.86134G>A
NG_011799.2:g.86134G>A
NG_011799.3:g.131556G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.383G>A MANE Select ENSP00000364000.3:p.Arg128His
ENST00000649966.1:c.245G>A ENSP00000496785.1:p.Arg82His
ENST00000374866.7:c.383G>A ENSP00000364000.3:p.Arg128His
ENST00000618828.1:c.-248G>A ENSP00000482184.1:n.-248G>A
NM_000393.3:c.383G>A NP_000384.2:p.Arg128His
XM_011510573.1:c.245G>A XP_011508875.1:p.Arg82His
NM_000393.4:c.383G>A NP_000384.2:p.Arg128His
XM_011510573.3:c.245G>A XP_011508875.1:p.Arg82His
NM_000393.5:c.383G>A MANE Select NP_000384.2:p.Arg128His
Search 100 bp 5'
Search 100 bp 3'