Canonical Allele Identifier: CA320027

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 213130
• ClinVar RCV Id: RCV000195660 ; RCV001535719 ; RCV002229474 ; RCV003114352 ; RCV002327035
• dbSNP Id: rs149064715
• ExAC: 2:189898938 C / T
• gnomAD v2: 2-189898938-C-T
• gnomAD v3: 2-189034212-C-T
• gnomAD v4: 2-189034212-C-T
• COSMIC: COSM74229
• MyVariant Identifiers: chr2:g.189898938C>T (hg19) ; chr2:g.189034212C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189034212C>T , CM000664.2:g.189034212C>T	GRCh38
NC_000002.11:g.189898938C>T , CM000664.1:g.189898938C>T	GRCh37
NC_000002.10:g.189607183C>T	NCBI36
NG_011799.1:g.150668G>A
NG_011799.2:g.150668G>A
NG_011799.3:g.196090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4358G>A MANE Select	ENSP00000364000.3:p.Arg1453Gln
ENST00000374866.7:c.4358G>A	ENSP00000364000.3:p.Arg1453Gln
ENST00000618828.1:c.3197G>A	ENSP00000482184.1:p.Arg1066Gln
NM_000393.3:c.4358G>A	NP_000384.2:p.Arg1453Gln
XM_011510573.1:c.4220G>A	XP_011508875.1:p.Arg1407Gln
NM_000393.4:c.4358G>A	NP_000384.2:p.Arg1453Gln
XM_011510573.3:c.4220G>A	XP_011508875.1:p.Arg1407Gln
NM_000393.5:c.4358G>A MANE Select	NP_000384.2:p.Arg1453Gln