Canonical Allele Identifier: CA2023106

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 618038
• ClinVar RCV Id: RCV000755978 ; RCV002233750 ; RCV003166003
• dbSNP Id: rs369867930
• ExAC: 2:189963456 C / T
• gnomAD v2: 2-189963456-C-T
• gnomAD v3: 2-189098730-C-T
• gnomAD v4: 2-189098730-C-T
• MyVariant Identifiers: chr2:g.189963456C>T (hg19) ; chr2:g.189098730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098730C>T , CM000664.2:g.189098730C>T	GRCh38
NC_000002.11:g.189963456C>T , CM000664.1:g.189963456C>T	GRCh37
NC_000002.10:g.189671701C>T	NCBI36
NG_011799.1:g.86150G>A
NG_011799.2:g.86150G>A
NG_011799.3:g.131572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.399G>A MANE Select	ENSP00000364000.3:p.Pro133=
ENST00000649966.1:c.261G>A	ENSP00000496785.1:p.Pro87=
ENST00000374866.7:c.399G>A	ENSP00000364000.3:p.Pro133=
ENST00000618828.1:c.-232G>A	ENSP00000482184.1:n.-232G>A
NM_000393.3:c.399G>A	NP_000384.2:p.Pro133=
XM_011510573.1:c.261G>A	XP_011508875.1:p.Pro87=
NM_000393.4:c.399G>A	NP_000384.2:p.Pro133=
XM_011510573.3:c.261G>A	XP_011508875.1:p.Pro87=
NM_000393.5:c.399G>A MANE Select	NP_000384.2:p.Pro133=