Canonical Allele Identifier: CA349866976

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 2771056
• ClinVar RCV Id: RCV003594586
• MyVariant Identifiers: chr2:g.189915333G>C (hg19) ; chr2:g.189050607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050607G>C , CM000664.2:g.189050607G>C	GRCh38
NC_000002.11:g.189915333G>C , CM000664.1:g.189915333G>C	GRCh37
NC_000002.10:g.189623578G>C	NCBI36
NG_011799.1:g.134273C>G
NG_011799.2:g.134273C>G
NG_011799.3:g.179695C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3001C>G MANE Select	ENSP00000364000.3:p.Arg1001Gly
ENST00000374866.7:c.3001C>G	ENSP00000364000.3:p.Arg1001Gly
ENST00000618828.1:c.1840C>G	ENSP00000482184.1:p.Arg614Gly
NM_000393.3:c.3001C>G	NP_000384.2:p.Arg1001Gly
XM_011510573.1:c.2863C>G	XP_011508875.1:p.Arg955Gly
NM_000393.4:c.3001C>G	NP_000384.2:p.Arg1001Gly
XM_011510573.3:c.2863C>G	XP_011508875.1:p.Arg955Gly
NM_000393.5:c.3001C>G MANE Select	NP_000384.2:p.Arg1001Gly