Canonical Allele Identifier: CA2021831

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 449639
• ClinVar RCV Id: RCV000522343 ; RCV002231210 ; RCV002329236
• dbSNP Id: rs150931608
• ExAC: 2:189899823 C / T
• gnomAD v2: 2-189899823-C-T
• gnomAD v3: 2-189035097-C-T
• gnomAD v4: 2-189035097-C-T
• COSMIC: COSM1013963
• MyVariant Identifiers: chr2:g.189899823C>T (hg19) ; chr2:g.189035097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035097C>T , CM000664.2:g.189035097C>T	GRCh38
NC_000002.11:g.189899823C>T , CM000664.1:g.189899823C>T	GRCh37
NC_000002.10:g.189608068C>T	NCBI36
NG_011799.1:g.149783G>A
NG_011799.2:g.149783G>A
NG_011799.3:g.195205G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4172G>A MANE Select	ENSP00000364000.3:p.Arg1391His
ENST00000374866.7:c.4172G>A	ENSP00000364000.3:p.Arg1391His
ENST00000618828.1:c.3011G>A	ENSP00000482184.1:p.Arg1004His
NM_000393.3:c.4172G>A	NP_000384.2:p.Arg1391His
XM_011510573.1:c.4034G>A	XP_011508875.1:p.Arg1345His
NM_000393.4:c.4172G>A	NP_000384.2:p.Arg1391His
XM_011510573.3:c.4034G>A	XP_011508875.1:p.Arg1345His
NM_000393.5:c.4172G>A MANE Select	NP_000384.2:p.Arg1391His