Canonical Allele Identifier: CA430322218

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 931340
• ClinVar RCV Id: RCV001197808
• dbSNP Id: rs1685766586
• gnomAD v4: 2-189050653-T-C
• MyVariant Identifiers: chr2:g.189915379T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050653T>C , CM000664.2:g.189050653T>C	GRCh38
NC_000002.11:g.189915379T>C , CM000664.1:g.189915379T>C	GRCh37
NC_000002.10:g.189623624T>C	NCBI36
NG_011799.1:g.134227A>G
NG_011799.2:g.134227A>G
NG_011799.3:g.179649A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.2955A>G MANE Select	ENSP00000364000.3:p.Pro985=
ENST00000374866.7:c.2955A>G	ENSP00000364000.3:p.Pro985=
ENST00000618828.1:c.1794A>G	ENSP00000482184.1:p.Pro598=
NM_000393.3:c.2955A>G	NP_000384.2:p.Pro985=
XM_011510573.1:c.2817A>G	XP_011508875.1:p.Pro939=
NM_000393.4:c.2955A>G	NP_000384.2:p.Pro985=
XM_011510573.3:c.2817A>G	XP_011508875.1:p.Pro939=
NM_000393.5:c.2955A>G MANE Select	NP_000384.2:p.Pro985=