Canonical Allele Identifier: CA2021894

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 408280
• ClinVar RCV Id: RCV000519249 ; RCV002230347 ; RCV002279230 ; RCV004022683
• dbSNP Id: rs142814184
• ExAC: 2:189904004 G / C
• gnomAD v2: 2-189904004-G-C
• gnomAD v3: 2-189039278-G-C
• gnomAD v4: 2-189039278-G-C
• MyVariant Identifiers: chr2:g.189904004G>C (hg19) ; chr2:g.189039278G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189039278G>C , CM000664.2:g.189039278G>C	GRCh38
NC_000002.11:g.189904004G>C , CM000664.1:g.189904004G>C	GRCh37
NC_000002.10:g.189612249G>C	NCBI36
NG_011799.1:g.145602C>G
NG_011799.2:g.145602C>G
NG_011799.3:g.191024C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3919C>G MANE Select	ENSP00000364000.3:p.Gln1307Glu
ENST00000374866.7:c.3919C>G	ENSP00000364000.3:p.Gln1307Glu
ENST00000618828.1:c.2758C>G	ENSP00000482184.1:p.Gln920Glu
NM_000393.3:c.3919C>G	NP_000384.2:p.Gln1307Glu
XM_011510573.1:c.3781C>G	XP_011508875.1:p.Gln1261Glu
NM_000393.4:c.3919C>G	NP_000384.2:p.Gln1307Glu
XM_011510573.3:c.3781C>G	XP_011508875.1:p.Gln1261Glu
NM_000393.5:c.3919C>G MANE Select	NP_000384.2:p.Gln1307Glu