Canonical Allele Identifier: CA10613486

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 333100
• ClinVar RCV Id: RCV000277809 ; RCV001139209 ; RCV001785576
• dbSNP Id: rs116255986
• gnomAD v2: 2-189896944-A-G
• gnomAD v3: 2-189032218-A-G
• gnomAD v4: 2-189032218-A-G
• MyVariant Identifiers: chr2:g.189896944A>G (hg19) ; chr2:g.189032218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189032218A>G , CM000664.2:g.189032218A>G	GRCh38
NC_000002.11:g.189896944A>G , CM000664.1:g.189896944A>G	GRCh37
NC_000002.10:g.189605189A>G	NCBI36
NG_011799.1:g.152662T>C
NG_011799.2:g.152662T>C
NG_011799.3:g.198084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.*1852T>C MANE Select	ENSP00000364000.3:n.*1852T>C
ENST00000374866.7:c.*1852T>C	ENSP00000364000.3:n.*1852T>C
ENST00000618828.1:c.*1852T>C	ENSP00000482184.1:n.*1852T>C
NM_000393.3:c.*1852T>C	NP_000384.2:n.*1852T>C
NM_000393.4:c.*1852T>C	NP_000384.2:n.*1852T>C
NM_000393.5:c.*1852T>C MANE Select	NP_000384.2:n.*1852T>C