Canonical Allele Identifier: CA10613229

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 333098
• ClinVar RCV Id: RCV000308369 ; RCV001139208 ; RCV001778924
• dbSNP Id: rs75096234
• gnomAD v2: 2-189896892-G-A
• gnomAD v3: 2-189032166-G-A
• gnomAD v4: 2-189032166-G-A
• MyVariant Identifiers: chr2:g.189896892G>A (hg19) ; chr2:g.189032166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189032166G>A , CM000664.2:g.189032166G>A	GRCh38
NC_000002.11:g.189896892G>A , CM000664.1:g.189896892G>A	GRCh37
NC_000002.10:g.189605137G>A	NCBI36
NG_011799.1:g.152714C>T
NG_011799.2:g.152714C>T
NG_011799.3:g.198136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.*1904C>T MANE Select	ENSP00000364000.3:n.*1904C>T
ENST00000374866.7:c.*1904C>T	ENSP00000364000.3:n.*1904C>T
ENST00000618828.1:c.*1904C>T	ENSP00000482184.1:n.*1904C>T
NM_000393.3:c.*1904C>T	NP_000384.2:n.*1904C>T
NM_000393.4:c.*1904C>T	NP_000384.2:n.*1904C>T
NM_000393.5:c.*1904C>T MANE Select	NP_000384.2:n.*1904C>T