Canonical Allele Identifier: CA10613488

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 333125
• ClinVar RCV Id: RCV000376562 ; RCV001143631
• dbSNP Id: rs143552248
• gnomAD v2: 2-189898405-T-C
• gnomAD v3: 2-189033679-T-C
• gnomAD v4: 2-189033679-T-C
• MyVariant Identifiers: chr2:g.189898405T>C (hg19) ; chr2:g.189033679T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189033679T>C , CM000664.2:g.189033679T>C	GRCh38
NC_000002.11:g.189898405T>C , CM000664.1:g.189898405T>C	GRCh37
NC_000002.10:g.189606650T>C	NCBI36
NG_011799.1:g.151201A>G
NG_011799.2:g.151201A>G
NG_011799.3:g.196623A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.*391A>G MANE Select	ENSP00000364000.3:n.*391A>G
ENST00000374866.7:c.*391A>G	ENSP00000364000.3:n.*391A>G
ENST00000618828.1:c.*391A>G	ENSP00000482184.1:n.*391A>G
NM_000393.3:c.*391A>G	NP_000384.2:n.*391A>G
XM_011510573.1:c.*391A>G	XP_011508875.1:n.*391A>G
NM_000393.4:c.*391A>G	NP_000384.2:n.*391A>G
XM_011510573.3:c.*391A>G	XP_011508875.1:n.*391A>G
NM_000393.5:c.*391A>G MANE Select	NP_000384.2:n.*391A>G