Canonical Allele Identifier: CA62601082
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 673977
ClinVar RCV Id: RCV000833275
dbSNP Id: rs79568088
gnomAD v2: 2-189927530-C-T
gnomAD v3: 2-189062804-C-T
gnomAD v4: 2-189062804-C-T
MyVariant Identifiers: chr2:g.189927530C>T (hg19) chr2:g.189062804C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062804C>T , CM000664.2:g.189062804C>T GRCh38
NC_000002.11:g.189927530C>T , CM000664.1:g.189927530C>T GRCh37
NC_000002.10:g.189635775C>T NCBI36
NG_011799.1:g.122076G>A
NG_011799.2:g.122076G>A
NG_011799.3:g.167498G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.1977+61G>A MANE Select ENSP00000364000.3:n.1977+61G>A
ENST00000374866.7:c.1977+61G>A ENSP00000364000.3:n.1977+61G>A
ENST00000470524.2:n.83+61G>A
ENST00000618828.1:c.816+61G>A ENSP00000482184.1:n.816+61G>A
NM_000393.3:c.1977+61G>A NP_000384.2:n.1977+61G>A
XM_011510573.1:c.1839+61G>A XP_011508875.1:n.1839+61G>A
NM_000393.4:c.1977+61G>A NP_000384.2:n.1977+61G>A
XM_011510573.3:c.1839+61G>A XP_011508875.1:n.1839+61G>A
NM_000393.5:c.1977+61G>A MANE Select NP_000384.2:n.1977+61G>A
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