Canonical Allele Identifier: CA323411

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 213129
• ClinVar RCV Id: RCV000198879 ; RCV002229473 ; RCV002327034
• dbSNP Id: rs761126767
• ExAC: 2:189899670 C / T
• gnomAD v2: 2-189899670-C-T
• gnomAD v3: 2-189034944-C-T
• gnomAD v4: 2-189034944-C-T
• MyVariant Identifiers: chr2:g.189899670C>T (hg19) ; chr2:g.189034944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189034944C>T , CM000664.2:g.189034944C>T	GRCh38
NC_000002.11:g.189899670C>T , CM000664.1:g.189899670C>T	GRCh37
NC_000002.10:g.189607915C>T	NCBI36
NG_011799.1:g.149936G>A
NG_011799.2:g.149936G>A
NG_011799.3:g.195358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4325G>A MANE Select	ENSP00000364000.3:p.Arg1442Gln
ENST00000374866.7:c.4325G>A	ENSP00000364000.3:p.Arg1442Gln
ENST00000618828.1:c.3164G>A	ENSP00000482184.1:p.Arg1055Gln
NM_000393.3:c.4325G>A	NP_000384.2:p.Arg1442Gln
XM_011510573.1:c.4187G>A	XP_011508875.1:p.Arg1396Gln
NM_000393.4:c.4325G>A	NP_000384.2:p.Arg1442Gln
XM_011510573.3:c.4187G>A	XP_011508875.1:p.Arg1396Gln
NM_000393.5:c.4325G>A MANE Select	NP_000384.2:p.Arg1442Gln