Canonical Allele Identifier: CA430442491

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 1553352
• ClinVar RCV Id: RCV002187505
• dbSNP Id: rs2153505989
• gnomAD v4: 2-189035132-T-C
• MyVariant Identifiers: chr2:g.189899858T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035132T>C , CM000664.2:g.189035132T>C	GRCh38
NC_000002.11:g.189899858T>C , CM000664.1:g.189899858T>C	GRCh37
NC_000002.10:g.189608103T>C	NCBI36
NG_011799.1:g.149748A>G
NG_011799.2:g.149748A>G
NG_011799.3:g.195170A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4137A>G MANE Select	ENSP00000364000.3:p.Ser1379=
ENST00000374866.7:c.4137A>G	ENSP00000364000.3:p.Ser1379=
ENST00000618828.1:c.2976A>G	ENSP00000482184.1:p.Ser992=
NM_000393.3:c.4137A>G	NP_000384.2:p.Ser1379=
XM_011510573.1:c.3999A>G	XP_011508875.1:p.Ser1333=
NM_000393.4:c.4137A>G	NP_000384.2:p.Ser1379=
XM_011510573.3:c.3999A>G	XP_011508875.1:p.Ser1333=
NM_000393.5:c.4137A>G MANE Select	NP_000384.2:p.Ser1379=