Canonical Allele Identifier: CA2022444
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421973
ClinVar RCV Id: RCV000486718 RCV002230946
dbSNP Id: rs772811492
ExAC: 2:189923601 C / T
gnomAD v2: 2-189923601-C-T
gnomAD v4: 2-189058875-C-T
COSMIC: COSM3575463
MyVariant Identifiers: chr2:g.189923601C>T (hg19) chr2:g.189058875C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058875C>T , CM000664.2:g.189058875C>T GRCh38
NC_000002.11:g.189923601C>T , CM000664.1:g.189923601C>T GRCh37
NC_000002.10:g.189631846C>T NCBI36
NG_011799.1:g.126005G>A
NG_011799.2:g.126005G>A
NG_011799.3:g.171427G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2104G>A MANE Select ENSP00000364000.3:p.Gly702Arg
ENST00000374866.7:c.2104G>A ENSP00000364000.3:p.Gly702Arg
ENST00000470524.2:n.210G>A
ENST00000618828.1:c.943G>A ENSP00000482184.1:p.Gly315Arg
NM_000393.3:c.2104G>A NP_000384.2:p.Gly702Arg
XM_011510573.1:c.1966G>A XP_011508875.1:p.Gly656Arg
NM_000393.4:c.2104G>A NP_000384.2:p.Gly702Arg
XM_011510573.3:c.1966G>A XP_011508875.1:p.Gly656Arg
NM_000393.5:c.2104G>A MANE Select NP_000384.2:p.Gly702Arg
Search 100 bp 5'
Search 100 bp 3'