Canonical Allele Identifier: CA10613476

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 333097
• ClinVar RCV Id: RCV000271986 ; RCV001139207 ; RCV001778923
• dbSNP Id: rs76482660
• gnomAD v2: 2-189896836-T-C
• gnomAD v3: 2-189032110-T-C
• gnomAD v4: 2-189032110-T-C
• MyVariant Identifiers: chr2:g.189896836T>C (hg19) ; chr2:g.189032110T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189032110T>C , CM000664.2:g.189032110T>C	GRCh38
NC_000002.11:g.189896836T>C , CM000664.1:g.189896836T>C	GRCh37
NC_000002.10:g.189605081T>C	NCBI36
NG_011799.1:g.152770A>G
NG_011799.2:g.152770A>G
NG_011799.3:g.198192A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.*1960A>G MANE Select	ENSP00000364000.3:n.*1960A>G
ENST00000374866.7:c.*1960A>G	ENSP00000364000.3:n.*1960A>G
ENST00000618828.1:c.*1960A>G	ENSP00000482184.1:n.*1960A>G
NM_000393.3:c.*1960A>G	NP_000384.2:n.*1960A>G
NM_000393.4:c.*1960A>G	NP_000384.2:n.*1960A>G
NM_000393.5:c.*1960A>G MANE Select	NP_000384.2:n.*1960A>G