Canonical Allele Identifier: CA2022506

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 377734
• ClinVar RCV Id: RCV000436928 ; RCV001137177 ; RCV002061367
• dbSNP Id: rs202204374
• ExAC: 2:189927579 A / C
• gnomAD v2: 2-189927579-A-C
• gnomAD v3: 2-189062853-A-C
• gnomAD v4: 2-189062853-A-C
• MyVariant Identifiers: chr2:g.189927579A>C (hg19) ; chr2:g.189062853A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062853A>C , CM000664.2:g.189062853A>C	GRCh38
NC_000002.11:g.189927579A>C , CM000664.1:g.189927579A>C	GRCh37
NC_000002.10:g.189635824A>C	NCBI36
NG_011799.1:g.122027T>G
NG_011799.2:g.122027T>G
NG_011799.3:g.167449T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+12T>G MANE Select	ENSP00000364000.3:n.1977+12T>G
ENST00000374866.7:c.1977+12T>G	ENSP00000364000.3:n.1977+12T>G
ENST00000470524.2:n.83+12T>G
ENST00000618828.1:c.816+12T>G	ENSP00000482184.1:n.816+12T>G
NM_000393.3:c.1977+12T>G	NP_000384.2:n.1977+12T>G
XM_011510573.1:c.1839+12T>G	XP_011508875.1:n.1839+12T>G
NM_000393.4:c.1977+12T>G	NP_000384.2:n.1977+12T>G
XM_011510573.3:c.1839+12T>G	XP_011508875.1:n.1839+12T>G
NM_000393.5:c.1977+12T>G MANE Select	NP_000384.2:n.1977+12T>G