Canonical Allele Identifier: CA324630

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 213132
• ClinVar RCV Id: RCV000200071 ; RCV002311047 ; RCV002229098
• dbSNP Id: rs761481937
• ExAC: 2:189898845 C / T
• gnomAD v2: 2-189898845-C-T
• gnomAD v3: 2-189034119-C-T
• gnomAD v4: 2-189034119-C-T
• MyVariant Identifiers: chr2:g.189898845C>T (hg19) ; chr2:g.189034119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189034119C>T , CM000664.2:g.189034119C>T	GRCh38
NC_000002.11:g.189898845C>T , CM000664.1:g.189898845C>T	GRCh37
NC_000002.10:g.189607090C>T	NCBI36
NG_011799.1:g.150761G>A
NG_011799.2:g.150761G>A
NG_011799.3:g.196183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4451G>A MANE Select	ENSP00000364000.3:p.Gly1484Asp
ENST00000374866.7:c.4451G>A	ENSP00000364000.3:p.Gly1484Asp
ENST00000618828.1:c.3290G>A	ENSP00000482184.1:p.Gly1097Asp
NM_000393.3:c.4451G>A	NP_000384.2:p.Gly1484Asp
XM_011510573.1:c.4313G>A	XP_011508875.1:p.Gly1438Asp
NM_000393.4:c.4451G>A	NP_000384.2:p.Gly1484Asp
XM_011510573.3:c.4313G>A	XP_011508875.1:p.Gly1438Asp
NM_000393.5:c.4451G>A MANE Select	NP_000384.2:p.Gly1484Asp