Canonical Allele Identifier: CA10613253
Gene: COL5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.189032306C>A
GRCh37 chr2:g.189897032C>A
gnomAD v2:
2:189897032 C / A
gnomAD v3:
2:189032306 C / A
gnomAD v4:
chr2-189032306-C-A
Joint Max Group AF 0.00319672 (EAS)
Genomes Max Group AF 0.00319672 (EAS)
ClinVar Allele:
286163
ClinVar RCV:
RCV000333040
RCV001139210
ClinVar Variation:
333101
dbSNP:
554165132
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189032306C>A , CM000664.2:g.189032306C>A GRCh38
NC_000002.11:g.189897032C>A , CM000664.1:g.189897032C>A GRCh37
NC_000002.10:g.189605277C>A NCBI36
NG_011799.1:g.152574G>T
NG_011799.2:g.152574G>T
NG_011799.3:g.197996G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.*1764G>T MANE Select ENSP00000364000.3:n.*1764G>T
ENST00000374866.7:c.*1764G>T ENSP00000364000.3:n.*1764G>T
ENST00000618828.1:c.*1764G>T ENSP00000482184.1:n.*1764G>T
NM_000393.3:c.*1764G>T NP_000384.2:n.*1764G>T
NM_000393.4:c.*1764G>T NP_000384.2:n.*1764G>T
NM_000393.5:c.*1764G>T MANE Select NP_000384.2:n.*1764G>T
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