Canonical Allele Identifier: CA349867206

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 1056780
• ClinVar RCV Id: RCV002242593
• dbSNP Id: rs2153508066
• gnomAD v4: 2-189050667-C-T
• MyVariant Identifiers: chr2:g.189915393C>T (hg19) ; chr2:g.189050667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050667C>T , CM000664.2:g.189050667C>T	GRCh38
NC_000002.11:g.189915393C>T , CM000664.1:g.189915393C>T	GRCh37
NC_000002.10:g.189623638C>T	NCBI36
NG_011799.1:g.134213G>A
NG_011799.2:g.134213G>A
NG_011799.3:g.179635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2941G>A MANE Select	ENSP00000364000.3:p.Gly981Ser
ENST00000374866.7:c.2941G>A	ENSP00000364000.3:p.Gly981Ser
ENST00000618828.1:c.1780G>A	ENSP00000482184.1:p.Gly594Ser
NM_000393.3:c.2941G>A	NP_000384.2:p.Gly981Ser
XM_011510573.1:c.2803G>A	XP_011508875.1:p.Gly935Ser
NM_000393.4:c.2941G>A	NP_000384.2:p.Gly981Ser
XM_011510573.3:c.2803G>A	XP_011508875.1:p.Gly935Ser
NM_000393.5:c.2941G>A MANE Select	NP_000384.2:p.Gly981Ser